Image shows a diagram of the three stages of Translation. In Initiation, mRNA, a ribosome and tRNA carry methionine form a complex. In elongation, the ribosome moves along the mRNA, as tRNA with matching anticodons bring and then drop off the corresponding amino acids. In termination, a stop codon is reached, and the entire complex disassembles, and releases the newly synthesize polypeptide.

Image shows a Lego (TM) representation of Gregor Mendel with his plants.

Image shows each of the five subtypes of White blood cells: Monocytes, eosinophil, basophil, lynphocytes and neutrophils.

A condition in which you don't have enough healthy red blood cells to carry adequate oxygen to the body's tissues resulting in symptoms including weakness and fatigue.

Created by: CK-12/Adapted by Christine Miller

Danger!  Acid!

You probably know that  batteries contain dangerous chemicals, including strong acids. Strong acids can hurt you if they come into contact with your skin or eyes. Therefore, it may surprise you to learn that your life depends on acids. There are many acids inside your body, and some of them are as strong as battery acid. Acids are needed for digestion and some forms of energy production. Genes are made of nucleic acids, proteins of amino acids, and lipids of fatty acids.

Acids (such as battery acid) are solutions. A solution is a mixture of two or more substances that has the same composition throughout. Many solutions are a mixture of water and some other substance. Not all solutions are acids. Some are bases and some are neither acids nor bases. To understand acids and bases, you need to know more about pure water.

In pure water (such as distilled water), a tiny fraction of water molecules naturally breaks down to form ions. An ion is an electrically charged atom or molecule. The breakdown of water is represented by the chemical equation:

2 H₂O → H₃O⁺ + OH^-

The products of this reaction are a hydronium ion (H3O⁺) and a hydroxide ion (OH^-). The hydroxide ion, which has a negative charge, forms when a water molecule gives up a positively charged hydrogen ion (H⁺). The hydronium ion, which has a positive charge, forms when another water molecule accepts the hydrogen ion.

The concentration of hydronium ions in a solution is known as acidity. In pure water, the concentration of hydronium ions is very low; only about one in ten million water molecules naturally breaks down to form a hydronium ion. As a result, pure water is essentially neutral. Acidity is measured on a scale called pH, as shown in Figure 3.12.2. Pure water has a pH of 7, so the point of neutrality on the pH scale is 7.

This pH scale shows the acidity of many common substances. The lower the pH value, the more acidic a substance is.

Acids

If a solution has a higher concentration of hydronium ions than pure water, it has a pH lower than 7. A solution with a pH lower than 7 is called an acid. As the hydronium ion concentration increases, the pH value decreases. Therefore, the more acidic a solution is, the lower its pH value is.

Did you ever taste vinegar? Like other acids, it tastes sour. Stronger acids can be harmful to organisms. Even stomach acid would eat through the stomach if it were not lined with a layer of mucus. Strong acids can also damage materials, even hard materials such as glass.

Bases

If a solution has a lower concentration of hydronium ions than pure water, it has a pH higher than 7. A solution with a pH higher than 7 is called a base. Bases, such as baking soda, have a bitter taste. Like strong acids, strong bases can harm organisms and damage materials. For example, lye can burn the skin, and bleach can remove the colour from clothing.

Many acids and bases in living things provide the pH that enzymes need. Enzymes are biological catalysts that must work effectively for biochemical reactions to occur. Most enzymes can do their job only at a certain level of acidity. Cells secrete acids and bases to maintain the proper pH for enzymes to do their work.

Every time you digest food, acids and bases are at work in your digestive system. Consider the enzyme pepsin, which helps break down proteins in the stomach. Pepsin needs an acidic environment to do its job. The stomach secretes a strong acid called hydrochloric acid that allows pepsin to work. When stomach contents enter the small intestine, the acid must be neutralized, because enzymes in the small intestine need a basic environment in order to work. An organ called the pancreas secretes a base named bicarbonate into the small intestine, and this base neutralizes the acid.

Do you ever have heartburn? The answer is probably "yes." More than 60 million Americans have heartburn at least once a month, and more than 15 million suffer from it on a daily basis. Knowing more about heartburn may help you prevent it or know when it's time to seek medical treatment.

Heartburn doesn't have anything to do with the heart, but it does cause a burning sensation in the vicinity of the chest. Normally, the acid secreted into the stomach remains in the stomach where it is needed to allow pepsin to do its job of digesting proteins. A long tube called the esophagus carries food from the mouth to the stomach. A sphincter, or valve, between the esophagus and stomach opens to allow swallowed food to enter the stomach and then closes to prevent stomach contents from backflowing into the esophagus. If this sphincter is weak or relaxes inappropriately, stomach contents flow into the esophagus. Because stomach contents are usually acidic, this causes the burning sensation known as heartburn. People who are prone to heartburn and suffer from it often may be diagnosed with GERD, which stands for gastroesophageal reflux disease.

GERD — as well as occasional heartburn — often can be improved by dietary and other lifestyle changes that decrease the amount and acidity of reflux from the stomach into the esophagus.

• Some foods and beverages seem to contribute to GERD, so these should be avoided. Problematic foods include chocolate, fatty foods, peppermint, coffee, and alcoholic beverages.
• Decreasing portion size and eating the last meal of the day at least a couple of hours before bedtime may reduce the risk of reflux occurring.
• Smoking tends to weaken the lower esophageal sphincter, so quitting the habit may help control reflux.
• GERD is often associated with being overweight. Losing weight often brings improvement.
• Some people are helped by sleeping with the head of the bed elevated. This allows gravity to help control the backflow of acids into the esophagus from the stomach.

If you have frequent heartburn and lifestyle changes don't help, you may need medication to control the condition. Over-the-counter (OTC) antacids may be all that you need to control the occasional heartburn attack. OTC medications are usually bases that neutralize stomach acids. They may also create bubbles that help block stomach contents from entering the esophagus. For some people, OTC medications are not enough, and prescription medications are instead required for the control of GERD. These prescription medications generally work by inhibiting acid secretion in the stomach.

Be sure to see a doctor if you can't control your heartburn, or you have it often. Untreated GERD not only interferes with quality of life, it may also lead to more serious complications, ranging from esophageal bleeding to esophageal cancer.

A group of diseases involving abnormal cell growth with the potential to invade or spread to other parts of the body.

A body system including a series of hollow organs joined in a long, twisting tube from the mouth to the anus. The hollow organs that make up the GI tract are the mouth, esophagus, stomach, small intestine, large intestine, and anus. The liver, pancreas, and gallbladder are the solid organs of the digestive system.

This sketch illustrates some of the variability in human cells. The shape and other characteristics that make each type of cell unique depend mainly on the specific proteins that particular cell type makes. Proteins are encoded in genes. All the cells in an organism have the same genes, so they all have genetic instructions for the same proteins. Obviously, different types of cells must use (or express) different genes to make different proteins.

Using a gene to make a protein is called gene expression. It includes the synthesis of the protein by the processes of transcription of DNA into mRNA,  and translation of mRNA into a protein. It may also include further processing of the protein after synthesis.

Gene expression is regulated to ensure that the correct proteins are made when and where they are needed. Regulation may occur at any point in the expression of a gene, from the start of the transcription phase of protein synthesis to the processing of a protein after synthesis occurs. The regulation of transcription is one of the most complicated parts of gene regulation in eukaryotic cells, and it is the focus of this concept.

As shown in Figure 5.9.2, transcription is controlled by regulatory proteins. These proteins bind to regions of DNA, called regulatory elements, which are located near promoters. The promoter is the region of a gene where RNA polymerase binds to initiate transcription of the DNA to mRNA. After regulatory proteins bind to regulatory elements, the proteins can interact with RNA polymerase. Regulatory proteins are typically either activators or repressors. Activators are regulatory proteins that promote transcription by enhancing the interaction of RNA polymerase with the promoter. Repressors are regulatory proteins that prevent transcription by impeding the progress of RNA polymerase along the DNA strand, so the DNA cannot be transcribed to mRNA.

Although regulatory proteins and elements are typically the key players in the regulation of transcription, other factors may also be involved. Regulation of transcription may also involve enhancers. Enhancers are distant regions of DNA that can loop back to interact with a gene's promoter. They can also increase the likelihood that transcription of the gene will occur.Enhancers

The TATA Box

Different types of cells have unique patterns of regulatory elements that result in only the necessary genes being transcribed. That’s why a blood cell and nerve cell, for example, are so different from each other. Some regulatory elements, however, are common to virtually all genes, regardless of the cells in which they occur. An example is the TATA box, which is a regulatory element that is part of the promoter of almost every eukaryotic gene. A number of regulatory proteins bind to the TATA box, forming a multi-protein complex. It is only when all of the appropriate proteins are bound to the TATA box that RNA polymerase recognizes the complex and binds to the promoter so transcription can begin.

The regulation of gene expression is extremely important in an organism's early development. Regulatory proteins must "turn on" certain genes in particular cells at just the right time, so the individual develops normal organs and organ systems. Homeobox genes are important genes that regulate development.

Homeobox genes are a large group of similar genes that direct the formation of many body structures during the embryonic stage. In humans, there are an estimated 235 functional homeobox genes. They are present on every chromosome and generally grouped in clusters. Homeobox genes contain instructions for making chains of 60 amino acids, called homeodomains. Proteins containing homeodomains are transcription factors that bind to and control the activities of other genes. The homeodomain is the part of the protein that binds to the target gene and controls its expression.

Some types of cancer occur because of mutations in the genes that control the cell cycle. Cancer-causing mutations most often occur in two types of regulatory genes: proto-oncogenes and tumor-suppressor genes. Both are shown in Figure 5.9.4.

• Proto-oncogenes are genes that normally help cells divide. When a proto-oncogene mutates to become an oncogene, it is continuously expressed, even when it is not supposed to be. This is like a car's accelerator pedal being stuck at full throttle. The car keeps racing at top speed. A cell, in this case, keeps dividing out of control, which can lead to cancer.
• Tumor suppressor genes are genes that normally slow down or stop cell division. When a mutation occurs in a tumor suppressor gene, it can no longer control cell division. This is like a car without brakes. The car can't be slowed or stopped. A cell, in this case, keeps dividing out of control, which can lead to cancer.

Attributions

Figure 5.9.1

Stem_cell_differentiation.svg by Haileyfournier on Wikimedia Commons is used under a CC BY-SA 4.0 (https://creativecommons.org/licenses/by-sa/4.0) license.

Figure 5.9.2

Activators and Repressors by Christine Miller is used under a CC BY-SA 4.0 (https://creativecommons.org/licenses/by-sa/4.0) license.

Figure 5.9.3

TATA_box_description by Luttysar on Wikimedia Commons is used under a CC BY-SA 4.0 (https://creativecommons.org/licenses/by-sa/4.0) license.

Figure 5.9.4

Pathways to cancer by CK-12 Foundation is used under a CC BY-NC 3.0 (http://creativecommons.org/licenses/by-nc/3.0/) license.

©CK-12 Foundation Licensed under  • Terms of Use • Attribution

References

Brainard, J/ CK-12 Foundation. (2012). Figure 3 Flow chart (series of mutations leading to cancer) [digital image]. In CK-12 College Human Biology (Section 5.8) [online Flexbook]. CK12.org. https://www.ck12.org/c/physical-science/concentration/?referrer=crossref

ndsuvirtualcell.(2008). Regulated transcription. YouTube. https://www.youtube.com/watch?v=vi-zWoobt_Q&feature=youtu.be

TED-Ed. (2012, December 5). How do cancer cells behave differently from healthy ones? - George Zaidan. YouTube. https://www.youtube.com/watch?v=BmFEoCFDi-w&feature=youtu.be

TED-Ed. (2015, April 15). What is leukemia? - Danilo Allegra and Dania Puggioni. YouTube. https://www.youtube.com/watch?v=Z3B-AaqjyjE&feature=youtu.be

Image shows the inheritance pattern of blossom colour in pea plants. In the parental generation, a purple blossomed plant was crossed with a white blossomed plant. In the next generation (F1), all blossoms were purple. When the F1 generation self-pollinated, 75% of the resulting F2 generation had purple blossoms while the remaining 25% had white blossoms.

Created by CK-12/Adapted by Christine Miller

As you read in the beginning of this chapter, new parents Samantha and Aki left their pediatrician’s office still unsure whether or not to vaccinate baby James. Dr. Rodriguez gave them a list of reputable sources where they could look up information about the safety of vaccines, including the Centers for Disease Control and Prevention (CDC). Samantha and Aki read that the consensus within the scientific community is that there is no link between vaccines and autism. They find a long list of studies published in peer-reviewed scientific journals that disprove any link. Additionally, some of the studies are “meta-analyses” that analyzed the findings from many individual studies. The new parents are reassured by the fact that many different researchers, using a large number of subjects in numerous well-controlled and well-reviewed studies, all came to the same conclusion.

Samantha also went back to the web page that originally scared her about the safety of vaccines. She found that the author was not a medical doctor or scientific researcher, but rather a self-proclaimed “child wellness expert.” He sold books and advertising on his site, some of which were related to claims of vaccine injury. She realized that he was both an unqualified and potentially biased source of information.

Samantha also realized that some of his arguments were based on correlations between autism and vaccines, but, as the saying goes, “correlation does not imply causation.” For instance, the recent rise in autism rates may have occurred during the same time period as an increase in the number of vaccines given in childhood, but Samantha could think of many other environmental and social factors that have also changed during this time period. There are just too many variables to come to the conclusion that vaccines, or anything else, are the cause of the rise in autism rates based on that type of argument alone. Also, she learned that the age of onset of autism symptoms happens to typically be around the time that the MMR vaccine is first given, so the apparent association in the timing may just be a coincidence.

Finally, Samantha came across news about  a measles outbreak in Vancouver, British Columbia in the winter of 2019. Measles wasn’t just a disease of the past! She learned that measles and whooping cough, which had previously been rare thanks to widespread vaccinations, are now on the rise, and that people choosing not to vaccinate their children seems to be one of the contributing factors. She realized that it is important to vaccinate her baby against these diseases, not only to protect him from their potentially deadly effects, but also to protect others in the population.

In their reading, Samantha and Aki learn that scientists do not yet know the causes of autism, but they feels reassured by the abundance of data that disproves any link with vaccines. Both parents think that the potential benefits of protecting their baby’s health against deadly diseases outweighs any unsubstantiated claims about vaccines. They will be making an appointment to get baby James his shots soon.

Attribution

Figure 1.8.1

[Photo of person sitting in front of personal computer] by Avel Chuklanov on Unsplash is used under the Unsplash License (https://unsplash.com/license).

The breakdown of larger molecules into smaller ones.

Created by: CK-12/Adapted by Christine Miller

Mutant Cosplay

You probably recognize these costumed comic fans in Figure 5.8.1 as two of the four Teenage Mutant Ninja Turtles. Can a mutation really turn a reptile into an anthropomorphic superhero? Of course not — but mutations can often result in other drastic (but more realistic) changes in living things.

Mutations are random changes in the sequence of bases in DNA or RNA. The word mutation may make you think of the Ninja Turtles, but that's a misrepresentation of how most mutations work. First of all, everyone has mutations. In fact, most people have dozens (or even hundreds!) of mutations in their DNA. Secondly, from an evolutionary perspective, mutations are essential. They are needed for evolution to occur because they are the ultimate source of all new genetic variation in any species.

Mutations have many possible causes. Some mutations seem to happen spontaneously, without any outside influence. They occur when errors are made during DNA replication or during the transcription phase of protein synthesis. Other mutations are caused by environmental factors. Anything in the environment that can cause a mutation is known as a mutagenno post. Examples of mutagens are shown in the figure below.

Types of Mutations

Mutations come in a variety of types. Two major categories of mutations are germline mutations and somatic mutations.

• Germline mutations occur in gametes (the sex cells), such as eggs and sperm. These mutations are especially significant because they can be transmitted to offspring, causing every cell in the offspring to carry those mutations.
• Somatic mutations occur in other cells of the body. These mutations may have little effect on the organism, because they are confined to just one cell and its daughter cells. Somatic mutations cannot be passed on to offspring.

Mutations also differ in the way that the genetic material is changed. Mutations may change an entire chromosome, or they may alter just one or a few nucleotides.

Chromosomal Alterations

Chromosomal alterations are mutations that change chromosome structure. They occur when a section of a chromosome breaks off and rejoins incorrectly, or otherwise does not rejoin at all. Possible ways in which these mutations can occur are illustrated in the figure below. Chromosomal alterations are very serious. They often result in the death of the organism in which they occur. If the organism survives, it may be affected in multiple ways. An example of a human disease caused by a chromosomal duplication is Charcot-Marie-Tooth disease type 1 (CMT1). It is characterized by muscle weakness, as well as loss of muscle tissue and sensation. The most common cause of CMT1 is a duplication of part of chromosome 17.

A point mutation is a change in a single nucleotide in DNA. This type of mutation is usually less serious than a chromosomal alteration. An example of a point mutation is a mutation that changes the codon UUU to the codon UCU. Point mutations can be silent, missense, or nonsense mutations, as described in Table 5.8.1. The effects of point mutations depend on how they change the genetic code.

Frameshift Mutations

A frameshift mutation is a deletion or insertion of one or more nucleotides, changing the reading frame of the base sequence. Deletions remove nucleotides, and insertions add nucleotides. Consider the following sequence of bases in RNA:

AUG-AAU-ACG-GCU = start-asparagine-threonine-alanine

Now, assume that an insertion occurs in this sequence. Let’s say an A nucleotide is inserted after the start codon AUG. The sequence of bases becomes:

AUG-AAA-UAC-GGC-U = start-lysine-tyrosine-glycine

Even though the rest of the sequence is unchanged, this insertion changes the reading frame and, therefore, all of the codons that follow it. As this example shows, a frameshift mutation can dramatically change how the codons in mRNA are read. This can have a drastic effect on the protein product.

The majority of mutations have neither negative nor positive effects on the organism in which they occur. These mutations are called neutral mutations. Examples include silent point mutations, which are neutral because they do not change the amino acids in the proteins they encode.

Many other mutations have no effects on the organism because they are repaired before protein synthesis occurs. Cells have multiple repair mechanisms to fix mutations in DNA.

Beneficial Mutations

Some mutations — known as beneficial mutations — have a positive effect on the organism in which they occur. They generally code for new versions of proteins that help organisms adapt to their environment. If they increase an organism’s chances of surviving or reproducing, the mutations are likely to become more common over time. There are several well-known examples of beneficial mutations. Here are two such examples:

1. Mutations have occurred in bacteria that allow the bacteria to survive in the presence of antibiotic drugs, leading to the evolution of antibiotic-resistant strains of bacteria.
2. A unique mutation is found in people in Limone,  a small town in Italy. The mutation protects them from developing atherosclerosis, which is the dangerous buildup of fatty materials in blood vessels despite a high-fat diet. The individual in which this mutation first appeared has even been identified and many of his descendants carry this gene.

Harmful Mutations

Imagine making a random change in a complicated machine, such as a car engine. There is a chance that the random change would result in a car that does not run well — or perhaps does not run at all. By the same token, a random change in a gene's DNA may result in the production of a protein that does not function normally... or may not function at all. Such mutations are likely to be harmful. Harmful mutations may cause genetic disorders or cancer.

• A genetic disorder is a disease, syndrome, or other abnormal condition caused by a mutation in one or more genes, or by a chromosomal alteration. An example of a genetic disorder is cystic fibrosis. A mutation in a single gene causes the body to produce thick, sticky mucus that clogs the lungs and blocks ducts in digestive organs.
• Cancer is a disease in which cells grow out of control and form abnormal masses of cells (called tumors). It is generally caused by mutations in genes that regulate the cell cycleno post. Because of the mutations, cells with damaged DNA are allowed to divide without restriction.

Inherited mutations are thought to play a role in roughly five to ten per cent of all cancers. Specific mutations that cause many of the known hereditary cancers have been identified. Most of the mutations occur in genes that control the growth of cells or the repair of damaged DNA.

Genetic testing can be done to determine whether individuals have inherited specific cancer-causing mutations. Some of the most common inherited cancers for which genetic testing is available include hereditary breast and ovarian cancer, caused by mutations in genes called BRCA1 and BRCA2. Besides breast and ovarian cancers, mutations in these genes may also cause pancreatic and prostate cancers. Genetic testing is generally done on a small sample of body fluid or tissue, such as blood, saliva, or skin cells. The sample is analyzed by a lab that specializes in genetic testing, and it usually takes at least a few weeks to get the test results.

Should you get genetic testing to find out whether you have inherited a cancer-causing mutation? Such testing is not done routinely just to screen patients for risk of cancer. Instead, the tests are generally done only when the following three criteria are met:

1. The test can determine definitively whether a specific gene mutation is present. This is the case with the BRCA1 and BRCA2 gene mutations, for example.
2. The test results would be useful to help guide future medical care. For example, if you found out you had a mutation in the BRCA1 or BRCA2 gene, you might get more frequent breast and ovarian cancer screenings than are generally recommended.
3. You have a personal or family history that suggests you are at risk of an inherited cancer.

Criterion number 3 is based, in turn, on such factors as:

• Diagnosis of cancer at an unusually young age.
• Several different cancers occurring independently in the same individual.
• Several close genetic relatives having the same type of cancer (such as a maternal grandmother, mother, and sister all having breast cancer).
• Cancer occurring in both organs in a set of paired organs (such as both kidneys or both breasts).

If you meet the criteria for genetic testing and are advised to undergo it, genetic counseling is highly recommended. A genetic counselor can help you understand what the results mean and how to make use of them to reduce your risk of developing cancer. For example, a positive test result that shows the presence of a mutation may not necessarily mean that you will develop cancer. It may depend on whether the gene is located on an autosome or sex chromosome, and whether the mutation is dominant or recessive. Lifestyle factors may also play a role in cancer risk even for hereditary cancers. Early detection can often be life saving if cancer does develop. Genetic counseling can also help you assess the chances that any children you may have will inherit the mutation.

Attributions

Figure 5.8.1

Ninja Turtles by Pat Loika on Flickr is used under a CC BY 2.0 (https://creativecommons.org/licenses/by/2.0/) license.

Figure 5.8.2

• Beauty treatment face mask by no-longer-here on Pixabay is used under the Pixabay License (https://pixabay.com/service/license/).
• HPV by AJC1 on Flickr is used under a CC BY-NC 2.0 (https://creativecommons.org/licenses/by-nc/2.0/) license.
• H Pylori by AJC1 on Flickr is used under a CC BY-NC 2.0 (https://creativecommons.org/licenses/by-nc/2.0/) license. 
• Vape and Cigarette by Vaping360 on Flickr is used under a CC BY 2.0 (https://creativecommons.org/licenses/by/2.0/) license.
• Hand X-Ray by Hellerhoff on Wikimedia Commons - CC BY-SA 3.0 (https://creativecommons.org/licenses/by-sa/3.0/deed.en) license.
• Hot dogs by unknown on PxFuel is used under the Pxfuel Terms (https://www.pxfuel.com/terms-of-use).
• Sunshine face is clipart.

Figure 5.8.3

Scheme of possible chromosome mutations/ Chromosomenmutationen by unknown on Wikimedia Commons is adapted from NIH's Talking Glossary of Genetics. [Changes as described by de:user:Dietzel65]. Further use and adapation (text translated to English) by Christine Miller as image is in the public domain (https://en.wikipedia.org/wiki/Public_domain).

References

Seeker. (2016, April 23). How radiation changes your DNA. YouTube. https://www.youtube.com/watch?v=PQjL4ZDuq2o&feature=youtu.be

TED. (2019, June 5). What you should know about vaping and e-cigarettes | Suchitra Krishnan-Sarin. YouTube. https://www.youtube.com/watch?v=a63t8r70QN0&feature=youtu.be

TED-Ed. (2014, September 22). Where do genes come from? - Carl Zimmer. YouTube. https://www.youtube.com/watch?v=z9HIYjRRaDE&feature=youtu.be

Wikipedia contributors. (2020, July 6). Breast cancer. In Wikipedia.  https://en.wikipedia.org/w/index.php?title=Breast_cancer&oldid=966366739

Wikipedia contributors. (2020, July 9). Charcot–Marie–Tooth disease. In Wikipedia. https://en.wikipedia.org/w/index.php?title=Charcot%E2%80%93Marie%E2%80%93Tooth_disease&oldid=966912915

Wikipedia contributors. (2020, July 7). Cystic fibrosis. In Wikipedia.  https://en.wikipedia.org/w/index.php?title=Cystic_fibrosis&oldid=966566921

Wikipedia contributors. (2020, June 4). Limone sul Garda. In Wikipedia. https://en.wikipedia.org/w/index.php?title=Limone_sul_Garda&oldid=960771991

Wikipedia contributors. (2020, June 23). Ovarian cancer. In Wikipedia.  https://en.wikipedia.org/w/index.php?title=Ovarian_cancer&oldid=964157192

Wikipedia contributors. (2020, May 7). BRCA mutation. In Wikipedia. https://en.wikipedia.org/w/index.php?title=BRCA_mutation&oldid=955463902

Wikipedia contributors. (2020, July 10). Teenage Mutant Ninja Turtles. In Wikipedia. https://en.wikipedia.org/w/index.php?title=Teenage_Mutant_Ninja_Turtles&oldid=967030468

A stem cell can become any type of body cell based on gene regulation. Types of cells a stem cell can become include, but are not limited to: Sex cells, muscle cells, fat cells, immune cells, bone cells, epithelial cells, nervous cells, and blood cells.

Image shows components of DNA regulating transcription. One a section of DNA regulating a specific gene, upstream, there is an enhancer, promoter sequences, and the TATA box. These preceded the coding strand section of DNA which includes introns and exons.

Image shows a diagram of the four stages of Meiosis I. In Prophase I, the nuclear envelope is fragmenting, the spindle fibers are forming, and the homologous pairs of chromosomes are undergoing crossing over, in which small segments of DNA are exchanged between homologous pairs. In metaphase I, the tetrads align at the equator. The alignment is termed Independent Alignment, since it is random for each tetrad which "side" the maternal or paternal chromosomes will end up on. In Anaphase I, the tetrads are seperated as dyads are pulled to opposite poles of the cell. In Telophase I the cleavage furrow forms, the dyads decondense and the nuclear envelope reforms as the spindle fibers fragment.

A chameleon on a branch, surrounded by foliage. The chameleon is camouflaged to blend into its surroundings.

Image illustrates how independent alignment greatly increases the genetic diversity among gametes produced. In a single cell undergoing Meiosis, independent alignment means that whether the paternal or maternal chromosome for each homologous pair ends up on the left or right is totally random, and is random for each pair of homologous chromosomes. In a cell which has 3 pairs of homologous chromosomes, there are 8 possible random alignments, which would each result in a different set of gametes being produced.

The first printout of the human genome to be presented as a series of books, displayed in the 'Medicine Now' room at the Wellcome Collection, London. The 3.4 billion units of DNA code are transcribed into more than a hundred volumes, each a thousand pages long, in type so small as to be barely legible.

A hard structure, embedded in the jaws of the mouth, that functions in chewing. Made of a dentin and covered in enamel, the hardest tissue in the body.

Figure 5.10.1

Image shows a photograph of Gregor Mendel.

Image shows the four stages of Meiosis II: In Prophase II, the dyads condense, the nuclear envelope fragments and spindle fibers form. In Metaphase II, the dyads align at the center of the cell. In Anaphase II, the dyads are split pulled to opposite ends of the cell. In Telophase II the chromatids decondense, nuclear envelope reforms and spindle fibers fragment.

Image shows the process of crossing over. A pair of homologous chromosomes are side by side. They then overlap the ends of their structures and trades these sections, attaching some maternal DNA onto the paternal chromosome, and some paternal DNA onto the maternal chromosome. The result is that, within the homologous pair of chromosomes, each of the four pieces of DNA, destined to enter 4 separate cells, is now consists of a unique mix of genes.

Polly Who?

Each hand in the Figure 5.15.1 photo has an extra pinky finger. This is a condition called polydactyly, which literally means "many digits." People with polydactyly may have extra fingers and/or toes, and the condition may affect just one hand or foot, or both hands and feet. Polydactyly is often genetic in origin and may be part of a genetic disorder associated with other abnormalities.

Genetic disorders are diseases, syndromes, or other abnormal conditions caused by mutations in one or more genes, or by chromosomal alterations. Genetic disorders are typically present at birth, but they should not be confused with congenital disorders, a category that includes any disorder present at birth, regardless of cause. Some congenital disorders are not caused by genetic mutations or chromosomal alterations. Instead, they are caused by problems that arise during embryonic or fetal development, or during the process of birth. An example of a nongenetic congenital disorder is fetal alcohol syndrome. This is a collection of birth defects, including facial anomalies and intellectual disability, caused by maternal alcohol consumption during pregnancy.

Table 5.15.1 lists several genetic disorders caused by mutations in just one gene. Some of the disorders are caused by mutations in autosomal genes, others by mutations in X-linked genes. Which disorders would you expect to be more common in males than females?

Very few genetic disorders are controlled by dominant mutant [pHypophosphatemicb_glossary id="2119"]alleles[/pb_glossary]. A dominant allele is expressed in every individual who inherits even one copy of it. If it causes a serious disorder, affected people may die young and fail to reproduce. Therefore, the mutant dominant allele is likely to die out of a population.

A recessive mutant allele — such as the allele that causes sickle cell anemia or cystic fibrosis — is not expressed in people who inherit just one copy of it. These people are called carriers. They do not have the disorder themselves, but they carry the mutant allele and their offspring can inherit it. Thus, the allele is likely to pass on to the next generation, rather than die out.

Mistakes may occur during meiosis that result in nondisjunction. This is the failure of replicated chromosomes to separate properly during meiosis. Some of the resulting gametes will be missing all or part of a chromosome, while others will have an extra copy of all or part of the chromosome. If such gametes are fertilized and form zygotes, they usually do not survive. If they do survive, the individuals are likely to have serious genetic disorders.

Table 5.15.2 lists several genetic disorders that are caused by abnormal numbers of chromosomes. Most chromosomal disorders involve the X chromosome. The X and Y chromosomes are the only chromosome pair in which the two chromosomes are very different in size. This explains why nondisjunction tends to occur more frequently in sex chromosomes than in autosomes.

A karyotype is a picture of a cell's chromosomes. In Figure 5.15.3, note the extra chromosome 21. In Figure 5.15.2, a young man with Down syndrome exhibits the characteristic facial appearance.

Diagnosing and Treating Genetic Disorders

A genetic disorder that is caused by a mutation can be inherited. Therefore, people with a genetic disorder in their family may be concerned about having children with the disorder. A genetic counselor can help them understand the risks of their children being affected. If they decide to have children, they may be advised to have prenatal (“before birth”) testing to see if the fetus has any genetic abnormalities. One method of prenatal testing is amniocentesis. In this procedure, a few fetal cells are extracted from the fluid surrounding the fetus in utero, and the fetal chromosomes are examined. Down syndrome and other chromosomal alterations can be detected in this way.

The symptoms of genetic disorders can sometimes be treated or prevented. In the genetic disorder called phenylketonuria (PKU), for example, the amino acid phenylalanine builds up in the body to harmful levels. PKU is caused by a mutation in a gene that normally codes for an enzyme needed to break down phenylalanine. When a person with PKU consumes foods high in phenylalanine (including many high-protein foods), the buildup of PKU can lead to serious health problems. In infants and young children, the build-up of phenylalanine can cause intellectual disability and delayed development, along with other serious problems. All babies in Canada and the United States and many other countries are screened for PKU soon after birth.  As shown in Figure 5.15.3, the PKU test involves collecting a small amount of blood from the infant, typically from the heel using a small lancet.  The blood is collected on a special type of filter paper and then brought to a laboratory for analysis. If PKU is diagnosed, the infant can be fed a low-phenylalanine diet, which prevents the buildup of phenylalanine and the health problems associated with it, including intellectual disability. As long as a low-phenylalanine diet is followed throughout life, most symptoms of the disorder can be prevented.

Cures for genetic disorders are still in the early stages of development. One potential cure is gene therapy. Gene therapy is an experimental technique that uses genes to treat or prevent disease. In gene therapy, normal genes are introduced into cells to compensate for abnormal genes. If a mutated gene causes a necessary protein to be nonfunctional or missing, gene therapy may be able to introduce a normal copy of the gene to produce the needed functional protein.

A gene inserted directly into a cell usually does not function, so a carrier called a vector is genetically engineered to deliver the gene (see Figure 5.15.4 illustration). Certain viruses, such as adenoviruses, are often used as vectors. They can deliver the new gene by infecting cells. The viruses are modified so they do not cause disease when used in people. If the treatment is successful, the new gene delivered by the vector will allow the synthesis of a functioning protein. Researchers still must overcome many technical challenges before gene therapy will be a practical approach to curing genetic disorders.

Down syndrome is the most common genetic cause of intellectual disability. It occurs in about one in every 700 live births, and it currently affects nearly half a million Americans. Until recently, scientists thought that the changes leading to intellectual disability in people with Down syndrome all happen before birth.

Even more recently, researchers discovered a genetic abnormality that affects brain development in people with Down syndrome throughout childhood and into adulthood. The newly discovered genetic abnormality changes communication between nerve cells in the brain, resulting in slower transmission of nerve impulses. This finding may eventually allow the development of strategies to promote brain functioning in Down syndrome patients, and it may also be applicable to other development disabilities, such as autism. The results of this promising study were published in the March 16, 2016 issue of the scientific journal Neuron.

Attributions

Figure 5.15.1

Polydactyly_ECS by Baujat G, Le Merrer M. on Wikimedia Commons is used under a CC BY 2.0 (https://creativecommons.org/licenses/by/2.0) license.

Figure 5.15.2

Downs/ All the Family [photo] by Nathan Anderson on Unsplash is used under the Unsplash License (https://unsplash.com/license).

Figure 5.15.3

Phenylketonuria_testing by U.S. Air Force photo/Staff Sgt Eric T. Sheler in the US Air Force National Archives on Wikimedia Commons is in the public domain (https://en.wikipedia.org/wiki/Public_domain).

Figure 5.15.4

Gene_therapy by National Institutes of Health (NIH) on Wikimedia Commons is in the public domain (https://en.wikipedia.org/wiki/Public_domain).

Figure 5.15.5

Boy_with_Down_Syndrome by Vanellus Foto on Wikimedia Commons is used under a CC BY-SA 3.0 (https://creativecommons.org/licenses/by-sa/3.0/deed.en) license.

References

Baujat, G., Le Merrer, M. (2007, January 23). Ellis-Van Creveld syndrome. Orphanet Journal of Rare Diseases, 2, 27. https://doi.org/10.1186/1750-1172-2-27

Hecht, M. (2019, June 26). What is polydactyly? [online article]. Healthline. https://www.healthline.com/health/polydactyly

Genetic and Rare Diseases Information Center (GARD). (2016). Hypophosphatemic rickets (previously called vitamin D-resistant rickets) [online article]. NIH. https://rarediseases.info.nih.gov/diseases/6735/hypophosphatemic-rickets [last updated 7/1/2020]

Mayo Clinic Staff. (n.d.). Cystic fibrosis [online article]. MayoClinic.org. https://www.mayoclinic.org/diseases-conditions/cystic-fibrosis/symptoms-causes/syc-20353700

Mayo Clinic Staff. (n.d.). Down syndrome [online article]. MayoClinic.org. https://www.mayoclinic.org/diseases-conditions/down-syndrome/diagnosis-treatment/drc-20355983

Mayo Clinic Staff. (n.d.). Hemophilia [online article]. MayoClinic.org. https://www.mayoclinic.org/diseases-conditions/hemophilia/symptoms-causes/syc-20373327

Mayo Clinic Staff. (n.d.). Klinefelter syndrome [online article]. MayoClinic.org. https://www.mayoclinic.org/diseases-conditions/klinefelter-syndrome/symptoms-causes/syc-20353949

Mayo Clinic Staff. (n.d.). Marfan syndrome [online article]. MayoClinic.org. https://www.mayoclinic.org/diseases-conditions/marfan-syndrome/symptoms-causes/syc-20350782

Mayo Clinic Staff. (n.d.). Phenylketonuria (PKU) [online article]. MayoClinic.org. https://www.mayoclinic.org/diseases-conditions/phenylketonuria/symptoms-causes/syc-20376302

Mayo Clinic Staff. (n.d.). Sickle cell anemia [online article]. MayoClinic.org. https://www.mayoclinic.org/diseases-conditions/sickle-cell-anemia/symptoms-causes/syc-20355876

Mayo Clinic Staff. (n.d.). Turner syndrome [online article]. MayoClinic.org. https://www.mayoclinic.org/diseases-conditions/turner-syndrome/symptoms-causes/syc-20360782

Mayo Clinic Staff. (n.d.). Triple X syndrome [online article]. MayoClinic.org. https://www.mayoclinic.org/diseases-conditions/triple-x-syndrome/symptoms-causes/syc-20350977

National Center on Birth Defects and Developmental Disabilities. (2020). Fetal alcohol spectrum disorders (FASDs): Basics about FASDs [webpage]. Centers for Disease Control and Prevention (CDC). https://www.cdc.gov/ncbddd/fasd/facts.html

TED-Ed. (2019, January 24). How CRISPR lets you edit DNA - Andrea M. Henle. YouTube. https://www.youtube.com/watch?v=6tw_JVz_IEc

TED. (2016, October 24). What you need to know about CRISPR | Ellen Jorgensen. YouTube. https://www.youtube.com/watch?v=1BXYSGepx7Q&feature=youtu.be

TED. (2017, February 10). The ethical dilemma of designer babies | Paul Knoepfler. YouTube. https://www.youtube.com/watch?v=nOHbn8Q1fBM&t=3s

Created by: CK-12/Adapted by Christine Miller

Polly Who?

Each hand in the Figure 5.15.1 photo has an extra pinky finger. This is a condition called polydactyly, which literally means "many digits." People with polydactyly may have extra fingers and/or toes, and the condition may affect just one hand or foot, or both hands and feet. Polydactyly is often genetic in origin and may be part of a genetic disorder associated with other abnormalities.

Genetic disorders are diseases, syndromes, or other abnormal conditions caused by mutations in one or more genes, or by chromosomal alterations. Genetic disorders are typically present at birth, but they should not be confused with congenital disorders, a category that includes any disorder present at birth, regardless of cause. Some congenital disorders are not caused by genetic mutations or chromosomal alterations. Instead, they are caused by problems that arise during embryonic or fetal development, or during the process of birth. An example of a nongenetic congenital disorder is fetal alcohol syndrome. This is a collection of birth defects, including facial anomalies and intellectual disability, caused by maternal alcohol consumption during pregnancy.

Table 5.15.1 lists several genetic disorders caused by mutations in just one gene. Some of the disorders are caused by mutations in autosomal genes, others by mutations in X-linked genes. Which disorders would you expect to be more common in males than females?

Very few genetic disorders are controlled by dominant mutant [pHypophosphatemicb_glossary id="2119"]alleles[/pb_glossary]. A dominant allele is expressed in every individual who inherits even one copy of it. If it causes a serious disorder, affected people may die young and fail to reproduce. Therefore, the mutant dominant allele is likely to die out of a population.

A recessive mutant allele — such as the allele that causes sickle cell anemia or cystic fibrosis — is not expressed in people who inherit just one copy of it. These people are called carriers. They do not have the disorder themselves, but they carry the mutant allele and their offspring can inherit it. Thus, the allele is likely to pass on to the next generation, rather than die out.

Mistakes may occur during meiosis that result in nondisjunction. This is the failure of replicated chromosomes to separate properly during meiosis. Some of the resulting gametes will be missing all or part of a chromosome, while others will have an extra copy of all or part of the chromosome. If such gametes are fertilized and form zygotes, they usually do not survive. If they do survive, the individuals are likely to have serious genetic disorders.

Table 5.15.2 lists several genetic disorders that are caused by abnormal numbers of chromosomes. Most chromosomal disorders involve the X chromosome. The X and Y chromosomes are the only chromosome pair in which the two chromosomes are very different in size. This explains why nondisjunction tends to occur more frequently in sex chromosomes than in autosomes.

A karyotype is a picture of a cell's chromosomes. In Figure 5.15.3, note the extra chromosome 21. In Figure 5.15.2, a young man with Down syndrome exhibits the characteristic facial appearance.

Diagnosing and Treating Genetic Disorders

A genetic disorder that is caused by a mutation can be inherited. Therefore, people with a genetic disorder in their family may be concerned about having children with the disorder. A genetic counselor can help them understand the risks of their children being affected. If they decide to have children, they may be advised to have prenatal (“before birth”) testing to see if the fetus has any genetic abnormalities. One method of prenatal testing is amniocentesis. In this procedure, a few fetal cells are extracted from the fluid surrounding the fetus in utero, and the fetal chromosomes are examined. Down syndrome and other chromosomal alterations can be detected in this way.

The symptoms of genetic disorders can sometimes be treated or prevented. In the genetic disorder called phenylketonuria (PKU), for example, the amino acid phenylalanine builds up in the body to harmful levels. PKU is caused by a mutation in a gene that normally codes for an enzyme needed to break down phenylalanine. When a person with PKU consumes foods high in phenylalanine (including many high-protein foods), the buildup of PKU can lead to serious health problems. In infants and young children, the build-up of phenylalanine can cause intellectual disability and delayed development, along with other serious problems. All babies in Canada and the United States and many other countries are screened for PKU soon after birth.  As shown in Figure 5.15.3, the PKU test involves collecting a small amount of blood from the infant, typically from the heel using a small lancet.  The blood is collected on a special type of filter paper and then brought to a laboratory for analysis. If PKU is diagnosed, the infant can be fed a low-phenylalanine diet, which prevents the buildup of phenylalanine and the health problems associated with it, including intellectual disability. As long as a low-phenylalanine diet is followed throughout life, most symptoms of the disorder can be prevented.

Cures for genetic disorders are still in the early stages of development. One potential cure is gene therapy. Gene therapy is an experimental technique that uses genes to treat or prevent disease. In gene therapy, normal genes are introduced into cells to compensate for abnormal genes. If a mutated gene causes a necessary protein to be nonfunctional or missing, gene therapy may be able to introduce a normal copy of the gene to produce the needed functional protein.

A gene inserted directly into a cell usually does not function, so a carrier called a vector is genetically engineered to deliver the gene (see Figure 5.15.4 illustration). Certain viruses, such as adenoviruses, are often used as vectors. They can deliver the new gene by infecting cells. The viruses are modified so they do not cause disease when used in people. If the treatment is successful, the new gene delivered by the vector will allow the synthesis of a functioning protein. Researchers still must overcome many technical challenges before gene therapy will be a practical approach to curing genetic disorders.

Down syndrome is the most common genetic cause of intellectual disability. It occurs in about one in every 700 live births, and it currently affects nearly half a million Americans. Until recently, scientists thought that the changes leading to intellectual disability in people with Down syndrome all happen before birth.

Even more recently, researchers discovered a genetic abnormality that affects brain development in people with Down syndrome throughout childhood and into adulthood. The newly discovered genetic abnormality changes communication between nerve cells in the brain, resulting in slower transmission of nerve impulses. This finding may eventually allow the development of strategies to promote brain functioning in Down syndrome patients, and it may also be applicable to other development disabilities, such as autism. The results of this promising study were published in the March 16, 2016 issue of the scientific journal Neuron.

Attributions

Figure 5.15.1

Polydactyly_ECS by Baujat G, Le Merrer M. on Wikimedia Commons is used under a CC BY 2.0 (https://creativecommons.org/licenses/by/2.0) license.

Figure 5.15.2

Downs/ All the Family [photo] by Nathan Anderson on Unsplash is used under the Unsplash License (https://unsplash.com/license).

Figure 5.15.3

Phenylketonuria_testing by U.S. Air Force photo/Staff Sgt Eric T. Sheler in the US Air Force National Archives on Wikimedia Commons is in the public domain (https://en.wikipedia.org/wiki/Public_domain).

Figure 5.15.4

Gene_therapy by National Institutes of Health (NIH) on Wikimedia Commons is in the public domain (https://en.wikipedia.org/wiki/Public_domain).

Figure 5.15.5

Boy_with_Down_Syndrome by Vanellus Foto on Wikimedia Commons is used under a CC BY-SA 3.0 (https://creativecommons.org/licenses/by-sa/3.0/deed.en) license.

References

Baujat, G., Le Merrer, M. (2007, January 23). Ellis-Van Creveld syndrome. Orphanet Journal of Rare Diseases, 2, 27. https://doi.org/10.1186/1750-1172-2-27

Hecht, M. (2019, June 26). What is polydactyly? [online article]. Healthline. https://www.healthline.com/health/polydactyly

Genetic and Rare Diseases Information Center (GARD). (2016). Hypophosphatemic rickets (previously called vitamin D-resistant rickets) [online article]. NIH. https://rarediseases.info.nih.gov/diseases/6735/hypophosphatemic-rickets [last updated 7/1/2020]

Mayo Clinic Staff. (n.d.). Cystic fibrosis [online article]. MayoClinic.org. https://www.mayoclinic.org/diseases-conditions/cystic-fibrosis/symptoms-causes/syc-20353700

Mayo Clinic Staff. (n.d.). Down syndrome [online article]. MayoClinic.org. https://www.mayoclinic.org/diseases-conditions/down-syndrome/diagnosis-treatment/drc-20355983

Mayo Clinic Staff. (n.d.). Hemophilia [online article]. MayoClinic.org. https://www.mayoclinic.org/diseases-conditions/hemophilia/symptoms-causes/syc-20373327

Mayo Clinic Staff. (n.d.). Klinefelter syndrome [online article]. MayoClinic.org. https://www.mayoclinic.org/diseases-conditions/klinefelter-syndrome/symptoms-causes/syc-20353949

Mayo Clinic Staff. (n.d.). Marfan syndrome [online article]. MayoClinic.org. https://www.mayoclinic.org/diseases-conditions/marfan-syndrome/symptoms-causes/syc-20350782

Mayo Clinic Staff. (n.d.). Phenylketonuria (PKU) [online article]. MayoClinic.org. https://www.mayoclinic.org/diseases-conditions/phenylketonuria/symptoms-causes/syc-20376302

Mayo Clinic Staff. (n.d.). Sickle cell anemia [online article]. MayoClinic.org. https://www.mayoclinic.org/diseases-conditions/sickle-cell-anemia/symptoms-causes/syc-20355876

Mayo Clinic Staff. (n.d.). Turner syndrome [online article]. MayoClinic.org. https://www.mayoclinic.org/diseases-conditions/turner-syndrome/symptoms-causes/syc-20360782

Mayo Clinic Staff. (n.d.). Triple X syndrome [online article]. MayoClinic.org. https://www.mayoclinic.org/diseases-conditions/triple-x-syndrome/symptoms-causes/syc-20350977

National Center on Birth Defects and Developmental Disabilities. (2020). Fetal alcohol spectrum disorders (FASDs): Basics about FASDs [webpage]. Centers for Disease Control and Prevention (CDC). https://www.cdc.gov/ncbddd/fasd/facts.html

TED-Ed. (2019, January 24). How CRISPR lets you edit DNA - Andrea M. Henle. YouTube. https://www.youtube.com/watch?v=6tw_JVz_IEc

TED. (2016, October 24). What you need to know about CRISPR | Ellen Jorgensen. YouTube. https://www.youtube.com/watch?v=1BXYSGepx7Q&feature=youtu.be

TED. (2017, February 10). The ethical dilemma of designer babies | Paul Knoepfler. YouTube. https://www.youtube.com/watch?v=nOHbn8Q1fBM&t=3s

Shows a human tongue. There are different areas on the tongue that have varying concentration of taste buds.

Oh, the Agony!

Wearing braces can be very uncomfortable, but it is usually worth it. Braces and other orthodontic treatments can re-align the teeth and jaws to improve bite and appearance. Braces can change the position of the teeth and the shape of the jaws because the human body is malleable. Many phenotypic traits — even those that have a strong genetic basis — can be molded by the environment. Changing the phenotype in response to the environment is just one of several ways we respond to environmental stress.

There are four different types of responses that humans may make to cope with environmental stress:

1. Adaptation
2. Developmental adjustment
3. Acclimatization
4. Cultural responses

The first three types of responses are biological in nature, and the fourth type is cultural. Only adaptation involves genetic change and occurs at the level of the population or species. The other three responses do not require genetic change, and they occur at the individual level.

An adaptation is a genetically-based trait that has evolved because it helps living things survive and reproduce in a given environment. Adaptations generally evolve in a population over many generations in response to stresses that last for a long period of time. Adaptations come about through natural selection. Those individuals who inherit a trait that confers an advantage in coping with an environmental stress are likely to live longer and reproduce more. As a result, more of their genes pass on to the next generation. Over many generations, the genes and the trait they control become more frequent in the population.

A Classic Example: Hemoglobin S and Malaria

Probably the most frequently-cited example of a genetic adaptation to an environmental stress is sickle cell trait. As you read in the previous section, people with sickle cell trait have one abnormal allele (S) and one normal allele (A) for hemoglobin, the red blood cell protein that carries oxygen in the blood. Sickle cell trait is an adaptation to the environmental stress of malaria, because people with the trait have resistance to this parasitic disease. In areas where malaria is endemic (present year-round), the sickle cell trait and its allele have evolved to relatively high frequencies.  It is a classic example of natural selection favoring heterozygotes for a gene with two alleles. This type of selection keeps both alleles at relatively high frequencies in a population.

To Taste or Not to Taste

Another example of an adaptation in humans is the ability to taste bitter compounds. Plants produce a variety of toxic compounds in order to protect themselves from being eaten, and these toxic compounds often have a bitter taste. The ability to taste bitter compounds is thought to have evolved as an adaptation, because it prevented people from eating poisonous plants. Humans have many different genes that code for bitter taste receptors, allowing us to taste a wide variety of bitter compounds.

A harmless bitter compound called phenylthiocarbamide (PTC) is not found naturally in plants, but it is similar to toxic bitter compounds that are found in plants. Humans' ability to taste this harmless substance has been tested in many different populations. In virtually every population studied, there are some people who can taste PTC (called tasters), and some people who cannot taste PTC, (called nontasters). The ratio of tasters to non-tasters varies among populations, but on average, 75 per cent of people can taste PTC and 25 per cent cannot.

Like many scientific discoveries, human variation in PTC-taster status was discovered by chance. Around 1930, a chemist named Arthur Fox was working with powdered PTC in his lab. Some of the powder accidentally blew into the air. Another lab worker noticed that the powdered PTC tasted bitter, but Fox couldn't detect any taste at all. Fox wondered how to explain this difference in PTC-tasting ability. Geneticists soon determined that PTC-taster status is controlled by a single gene with two common alleles, usually represented by the letters T and t. The T allele encodes a chemical receptor protein (found in taste buds on the tongue, as illustrated in Figure 6.4.2) that can strongly bind to PTC. The other allele, t, encodes a version of the receptor protein that cannot bind as strongly to PTC. The particular combination of these two alleles that a person inherits determines whether the person finds PTC to taste very bitter (TT), somewhat bitter (Tt), or not bitter at all (tt).

If the ability to taste bitter compounds is advantageous, why does every human population studied contain a significant percentage of people who are nontasters? Why has the nontasting allele been preserved in human populations at all? Some scientists hypothesize that the nontaster allele actually confers the ability to taste some other, yet-to-be identified, bitter compound in plants. People who inherit both alleles would presumably be able to taste a wider range of bitter compounds, so they would have the greatest ability to avoid plant toxins. In other words, the heterozygote genotype for the taster gene would be the most fit and favored by natural selection.

Most people no longer have to worry whether the plants they eat contain toxins. The produce you grow in your garden or buy at the supermarket consists of known varieties that are safe to eat. However, natural selection may still be at work in human populations for the PTC-taster gene, because PTC tasters may be more sensitive than nontasters to bitter compounds in tobacco and vegetables in the cabbage family (that is, cruciferous vegetables, such as the broccoli, cauliflower, and cabbage pictured in Figure 6.4.3).

• People who find PTC to taste very bitter are less likely to smoke tobacco, presumably because tobacco smoke has a stronger bitter taste to these individuals. In this case, selection would favor taster genotypes, because tasters would be more likely to avoid smoking and its serious health risks.
• Strong tasters find cruciferous vegetables to taste bitter. As a result, they may avoid eating these vegetables (and perhaps other foods, as well), presumably resulting in a diet that is less varied and nutritious. In this scenario, natural selection might work against taster genotypes.

Figure 6.4.3 Cruciferous vegetables.

It takes a relatively long time for genetic change in response to environmental stress to produce a population with adaptations. Fortunately, we can adjust to some environmental stresses more quickly by changing in nongenetic ways. One type of nongenetic response to stress is developmental adjustment. This refers to phenotypic change that occurs during development in infancy or childhood, and that may persist into adulthood. This type of change may be irreversible by adulthood.

Phenotypic Plasticity

Developmental adjustment is possible because humans have a high degree of phenotypic plasticity, which is the ability to alter the phenotype in response to changes in the environment. Phenotypic plasticity allows us to respond to changes that occur within our lifetime, and it is particularly important for species (like our own) that have a long generation time. With long generations, evolution of genetic adaptations may occur too slowly to keep up with changing environmental stresses.

Developmental Adjustment and Cultural Practices

Developmental adjustment may be the result of naturally occurring environmental stresses or cultural practices, including medical or dental treatments. Like our example at the beginning of this section, using braces to change the shape of the jaw and the position of the teeth is an example of a dental practice that brings about a developmental adjustment. Another example of developmental adjustment is the use of a back brace to treat scoliosis (see images in Figure 6.4.4). Scoliosis is an abnormal curvature from side to side in the spine. If the problem is not too severe, a brace, if worn correctly, should prevent the curvature from worsening as a child grows, although it cannot straighten a curve that is already present. Surgery may be required to do that.

Developmental Adjustment and Nutritional Stress

An important example of developmental adjustment that results from a naturally occurring environmental stress is the cessation of physical growth that occurs in children who are under nutritional stress. Children who lack adequate food to fuel both growth and basic metabolic processes are likely to slow down in their growth rate — or even to stop growing entirely. Shunting all available calories and nutrients into essential life functions may keep the child alive at the expense of increasing body size.

Table 6.4.1 shows the effects of inadequate diet on children's' growth in several countries worldwide. For each country, the table gives the prevalence of stunting in children under the age of five. Children are considered stunted if their height is at least two standard deviations below the median height for their age in an international reference population.

Table 6.4.1

Percentage of Stunting in Young Children in Selected Countries (2011-2015)

After a growth slow-down occurs and if adequate food becomes available, a child may be able to make up the loss of growth. If food is plentiful, the child may grow more rapidly than normal until the original, genetically-determined growth trajectory is reached. If the inadequate diet persists, however, the failure of growth may become chronic, and the child may never reach his or her full potential adult size.

Phenotypic plasticity of body size in response to dietary change has been observed in successive generations within populations. For example, children in Japan were taller, on average, in each successive generation after the end of World War II. Boys aged 14-15 years old in 1986 were an average of about 18 cm (7 in.) taller than boys of the same age in 1959, a generation earlier. This is a highly significant difference, and it occurred too quickly to be accounted for by genetic change. Instead, the increase in height is a developmental adjustment, thought to be largely attributable to changes in the Japanese diet since World War II. During this period, there was an increase in the amount of animal protein and fat, as well as in the total calories consumed.

Other responses to environmental stress are reversible and not permanent, whether they occur in childhood or adulthood. The development of reversible changes to environmental stress is called acclimatization. Acclimatization generally develops over a relatively short period of time. It may take just a few days or weeks to attain a maximum response to a stress. When the stress is no longer present, the acclimatized state declines, and the body returns to its normal baseline state. Generally, the shorter the time for acclimatization to occur, the more quickly the condition is reversed when the environmental stress is removed.

Acclimatization to UV Light

A common example of acclimatization is tanning of the skin (see Figure 6.4.5). This occurs in many people in response to exposure to ultraviolet radiation from the sun. Special pigment cells in the skin, called melanocytes, produce more of the brown pigment melanin when exposed to sunlight. The melanin collects near the surface of the skin where it absorbs UV radiation so it cannot penetrate and potentially damage deeper skin structures. Tanning is a reversible change in the phenotype that helps the body deal temporarily with the environmental stress of high levels of UV radiation. When the skin is no longer exposed to the sun’s rays, the tan fades, generally over a period of a few weeks or months.

Figure 6.4.5 Tanning of the skin occurs in many people in response to exposure to ultraviolet radiation from the sun.

Another common example of acclimatization occurs in response to heat. Changes that occur with heat acclimatization include increased sweat output and earlier onset of sweat production, which helps the body stay cool because evaporation of sweat takes heat from the body’s surface in a process called evaporative cooling. It generally takes a couple of weeks for maximum heat acclimatization to come about by gradually working out harder and longer at high air temperatures. The changes that occur with acclimatization just as quickly subside when the body is no longer exposed to excessive heat.

Acclimatization to High Altitude

Short term acclimatization to high altitude occurs as a response to low levels of oxygen in the blood.  This reduced level of oxygen is detected by carotid bodies, which will trigger in increase in breathing and heart rate.  Over a period of weeks the body will compensate by increasing red blood cell production, thereby improving the oxygen-carrying capacity of the blood.  This is why mountaineers wishing to climb to the peak of Mount Everest must complete the full climb in portions; it is recommended that climbers spend 2-3 days acclimatizing for every 600 metres of elevation increase.  In addition, the higher to altitude, the longer it make take to acclimatize; climbers are advised to spend 4-5 days acclimatizing at base camp (whether the base camp in Nepal or China) before completing the final leg of the climb to the peak.  The concentration of red blood cells gradually decreases to normal levels once a climber returns to their normal elevation.

More than any other species, humans respond to environmental stresses with learned behaviors and technology. These cultural responses allow us to change our environments to control stresses, rather than changing our bodies genetically or physiologically to cope with the stresses. Even archaic humans responded to some environmental stresses in this way. For example, Neanderthals used shelters, fires, and animal hides as clothing to stay warm in the cold climate in Europe during the last ice age. Today, we use more sophisticated technologies to stay warm in cold climates while retaining our essentially tropical-animal anatomy and physiology. We also use technology (such as furnaces and air conditioners) to avoid temperature stress and stay comfortable in hot or cold climates.

Attributions

Figure 6.4.1

Free_Awesome_Girl_With_Braces_Close_Up by D. Sharon Pruitt from Hill Air Force Base, Utah, USA on Wikimedia Commons is used under a  CC BY 2.0 (https://creativecommons.org/licenses/by/2.0/deed.en) license.

Figure 6.4.2

Tongue by Mahdiabbasinv on Wikimedia Commons is used under a CC BY-SA 4.0 (https://creativecommons.org/licenses/by-sa/4.0/deed.en) license.

Figure 6.4.3

• White cauliflower on brown wooden chopping board by Louis Hansel @shotsoflouis on Unsplash is used under the Unsplash License (https://unsplash.com/license).
• Broccoli on wooden chopping board by Louis Hansel @shotsoflouis on Unsplash is used under the Unsplash License (https://unsplash.com/license).
• Green cabbage close up by Craig Dimmick on Unsplash is used under the Unsplash License (https://unsplash.com/license).
• Cabbage hybrid/ brussel sprouts by Solstice Hannan on Unsplash is used under the Unsplash License (https://unsplash.com/license).
• Kale by Laura Johnston on Unsplash is used under the Unsplash License (https://unsplash.com/license).
• Tiny bok choy at the Asian market by Jodie Morgan on Unsplash is used under the Unsplash License (https://unsplash.com/license).

Figure 6.4.4

Scoliosis_patient_in_cheneau_brace_correcting_from_56_to_27_deg by Weiss H.R. from Scoliosis Journal/BioMed Central Ltd. on Wikimedia Commons is used under a CC BY 2.0 (https://creativecommons.org/licenses/by/2.0) license.

Figure 6.4.5

• Tan Lines by k.steudel on Flickr is used under a CC BY 2.0 (https://creativecommons.org/licenses/by/2.0/) license.
• Twin tan lines (all sizes) by Quinn Dombrowski on Flickr is used under a CC BY-SA 2.0 (https://creativecommons.org/licenses/by-sa/2.0/) license.
• Wedding ring tan line by Quinn Dombrowski on Flickr is used under a CC BY-SA 2.0 (https://creativecommons.org/licenses/by-sa/2.0/) license.
• Tan by Evil Erin on Flickr is used under a CC BY 2.0 (https://creativecommons.org/licenses/by/2.0/) license.

Figure 6.4.6

Nepalese base camp by Mark Horrell on Flickr is used under a CC BY-NC-SA 2.0 (https://creativecommons.org/licenses/by-nc-sa/2.0/) license.

References

TED-Ed. (2016, October 4). Could we survive prolonged space travel? - Lisa Nip. YouTube. https://www.youtube.com/watch?v=upp9-w6GPhU&feature=youtu.be

TED-Ed. (2019, May 6). How this disease changes the shape of your cells - Amber M. Yates. YouTube. https://www.youtube.com/watch?v=hRnrIpUMyZQ&feature=youtu.be

Weiss, H. (2007). Is there a body of evidence for the treatment of patients with Adolescent Idiopathic Scoliosis (AIS)? [Figure 2 - digital photograph],  Scoliosis, 2(19). https://doi.org/10.1186/1748-7161-2-19

Created by CK-12 Foundation/Adapted by Christine Miller

The swimmer in the Figure 13.3.1 photo is doing the butterfly stroke, a swimming style that requires the swimmer to carefully control his breathing so it is coordinated with his swimming movements. Breathing is the process of moving air into and out of the lungs, which are the organs in which gas exchange takes place between the atmosphere and the body. Breathing is also called ventilation, and it is one of two parts of the life-sustaining process of respiration. The other part is gas exchange. Before you can understand how breathing is controlled, you need to know how breathing occurs.

Breathing is a two-step process that includes drawing air into the lungs, or inhaling, and letting air out of the lungs, or exhaling. Both processes are illustrated in Figure 13.3.2.

Inhaling

Inhaling is an active process that results mainly from contraction of a muscle called the diaphragm, shown in Figure 13.3.2. The diaphragm is a large, dome-shaped muscle below the lungs that separates the thoracic (chest) and abdominal cavities. When the diaphragm contracts it moves down causing the thoracic cavity to expand, and the contents of the abdomen to be pushed downward. Other muscles — such as intercostal muscles between the ribs — also contribute to the process of inhalation, especially when inhalation is forced, as when taking a deep breath. These muscles help increase thoracic volume by expanding the ribs outward. The increase in thoracic volume creates a decrease in thoracic air pressure.  With the chest expanded, there is lower air pressure inside the lungs than outside the body, so outside air flows into the lungs via the respiratory tract according the the pressure gradient (high pressure flows to lower pressure).

Exhaling

Exhaling involves the opposite series of events. The diaphragm relaxes, so it moves upward and decreases the volume of the thorax. Air pressure inside the lungs increases, so it is higher than the air pressure outside the lungs. Exhalation, unlike inhalation, is typically a passive process that occurs mainly due to the elasticity of the lungs. With the change in air pressure, the lungs contract to their pre-inflated size, forcing out the air they contain in the process. Air flows out of the lungs, similar to the way air rushes out of a balloon when it is released. If exhalation is forced, internal intercostal and abdominal muscles may help move the air out of the lungs.

Breathing is one of the few vital bodily functions that can be controlled consciously, as well as unconsciously. Think about using your breath to blow up a balloon. You take a long, deep breath, and then you exhale the air as forcibly as you can into the balloon. Both the inhalation and exhalation are consciously controlled.

Conscious Control of Breathing

You can control your breathing by holding your breath, slowing your breathing, or hyperventilating, which is breathing more quickly and shallowly than necessary. You can also exhale or inhale more forcefully or deeply than usual. Conscious control of breathing is common in many activities besides blowing up balloons, including swimming, speech training, singing, playing many different musical instruments (Figure 13.3.3), and doing yoga, to name just a few.

There are limits on the conscious control of breathing. For example, it is not possible for a healthy person to voluntarily stop breathing indefinitely. Before long, there is an irrepressible urge to breathe. If you were able to stop breathing for a long enough time, you would lose consciousness. The same thing would happen if you were to hyperventilate for too long. Once you lose consciousness so you can no longer exert conscious control over your breathing, involuntary control of breathing takes over.

Unconscious Control of Breathing

Unconscious breathing is controlled by respiratory centers in the medulla and pons of the brainstem (see Figure 13.3.4). The respiratory centers automatically and continuously regulate the rate of breathing based on the body’s needs. These are determined mainly by blood acidity, or pH. When you exercise, for example, carbon dioxide levels increase in the blood, because of increased cellular respiration by muscle cells. The carbon dioxide reacts with water in the blood to produce carbonic acid, making the blood more acidic, so pH falls. The drop in pH is detected by chemoreceptors in the medulla. Blood levels of oxygen and carbon dioxide, in addition to pH, are also detected by chemoreceptors in major arteries, which send the “data” to the respiratory centers. The latter respond by sending nerve impulses to the diaphragm, “telling” it to contract more quickly so the rate of breathing speeds up. With faster breathing, more carbon dioxide is released into the air from the blood, and blood pH returns to the normal range.

The opposite events occur when the level of carbon dioxide in the blood becomes too low and blood pH rises. This may occur with involuntary hyperventilation, which can happen in panic attacks, episodes of severe pain, asthma attacks, and many other situations. When you hyperventilate, you blow off a lot of carbon dioxide, leading to a drop in blood levels of carbon dioxide. The blood becomes more basic (alkaline), causing its pH to rise.

Nasal breathing is breathing through the nose rather than the mouth, and it is generally considered to be superior to mouth breathing. The hair-lined nasal passages do a better job of filtering particles out of the air before it moves deeper into the respiratory tract. The nasal passages are also better at warming and moistening the air, so nasal breathing is especially advantageous in the winter when the air is cold and dry. In addition, the smaller diameter of the nasal passages creates greater pressure in the lungs during exhalation. This slows the emptying of the lungs, giving them more time to extract oxygen from the air.

Drowning is defined as respiratory impairment from being in or under a liquid. It is further classified according to its outcome into: death, ongoing health problems, or no ongoing health problems (full recovery). Four hundred Canadians die annually from drowning, and drowning is one of the leading causes of death in children under the age of five. There are some potentially dangerous myths about drowning, and knowing what they are might save your life or the life of a loved one, especially a child.

Attributions

Figure 13.3.1

US_Marines_butterfly_stroke by Cpl. Jasper Schwartz from U.S. Marine Corps on Wikimedia Commons is in the public domain (https://en.wikipedia.org/wiki/Public_domain).

Figure 13.3.2

Inhale Exhale/Breathing cycle by Siyavula Education on Flickr is used under a CC BY 2.0 (https://creativecommons.org/licenses/by/2.0/) license.

Figure 13.3.3

Trumpet/ Frenchmen Street [photo] by Morgan Petroski on Unsplash is used under the Unsplash License (https://unsplash.com/license).

Figure 13.3.4

Respiratory_Centers_of_the_Brain by OpenStax College on Wikimedia Commons is used under a CC BY 3.0 (https://creativecommons.org/licenses/by/3.0) license.

Figure 13.3.5

Lily & Ava in the Kiddie Pool by mob mob on Flickr is used under a CC BY-NC 2.0 (https://creativecommons.org/licenses/by-nc/2.0/) license.

References

Betts, J. G., Young, K.A., Wise, J.A., Johnson, E., Poe, B., Kruse, D.H., Korol, O., Johnson, J.E., Womble, M., DeSaix, P. (2013, June 19). Figure 22.20 Respiratory centers of the brain [digital image].  In Anatomy and Physiology (Section 22.3). OpenStax. https://openstax.org/books/anatomy-and-physiology/pages/22-3-the-process-of-breathing

Kai Simon. (2015, January 11). The ultimate relaxation technique: How to practice diaphragmatic breathing for beginners. YouTube. https://www.youtube.com/watch?v=Vca6DyFqt4c&feature=youtu.be

TED. (2010, January 19). How I held my breath for 17 minutes | David Blaine. YouTube. https://www.youtube.com/watch?v=XFnGhrC_3Gs&feature=youtu.be

TED-Ed. (2012, October 4). How breathing works - Nirvair Kaur. YouTube. https://www.youtube.com/watch?v=Kl4cU9sG_08&feature=youtu.be

TED-Ed. (2020, May 21). How do ventilators work? - Alex Gendler. YouTube. https://www.youtube.com/watch?v=yDtKBXOEsoM&feature=youtu.be

Image shows a photo of a young child exhibiting Polydactyly- a condition in which a person is born with extra fingers or toes. In this photo, the child has an extra pinky finger on each hand.

Image shows a diagram of the implications of an x-linked recessive trait when carried by the mother. If a carrier mother has children with an unaffected father, 25% of their children can be expected to be unaffected males, 25% affected males, 25% unaffected females, and 25% carrier females.

Image shows a diagram of Killer T Cell funtion. An infected cell displays a pathogen antigen on an MHC. The Killer T Cell interacts with the MHC and in response produces perforin ( a protein that pokes holes in cell membranes) and granzymes (proteins that instruct a cell to carry out programmed cell death). The infected cell dies from the combination of these substances, and as it dies, so does the pathogen inside the infected cell. The Killer T Cell is free to move on and find and destroy other infected cells.

Created by CK-12 Foundation/Adapted by Christine Miller

Nineteen-year-old Malcolm is about to take his first plane flight. Shortly after he boards the plane and sits down, a man in his late sixties sits next to him in the aisle seat. About half an hour after the plane takes off, the pilot announces that she is turning the seat belt light off, and that it is safe to move around the cabin.

The man in the aisle seat — who has introduced himself to Malcolm as Willie — immediately unbuckles his seat belt and paces up and down the aisle a few times before returning to his seat. After about 45 minutes, Willie gets up again, walks some more, then sits back down and does some foot and leg exercises. After the third time Willie gets up and paces the aisles, Malcolm asks him whether he is walking so much to accumulate steps on a pedometer or fitness tracking device. Willie laughs and says no. He is actually trying to do something even more important for his health — prevent a blood clot from forming in his legs.

Willie explains that he has a chronic condition: heart failure. Although it sounds scary, his condition is currently well-managed, and he is able to lead a relatively normal lifestyle. However, it does put him at risk of developing other serious health conditions, such as deep vein thrombosis (DVT), which is when a blood clot occurs in the deep veins, usually in the legs. Air travel — and other situations where a person has to sit for a long period of time — increases the risk of DVT. Willie’s doctor said that he is healthy enough to fly, but that he should walk frequently and do leg exercises to help avoid a blood clot.

As you read this chapter, you will learn about the heart, blood vessels, and blood that make up the cardiovascular system, as well as disorders of the cardiovascular system, such as heart failure. At the end of the chapter you will learn more about why DVT occurs, why Willie has to take extra precautions when he flies, and what can be done to lower the risk of DVT and its potentially deadly consequences.

Attribution

Figure 14.1.1

aircraft-1583871_1920 [photo] by olivier89 from Pixabay is used under the Pixabay License (https://pixabay.com/de/service/license/).

A peptide hormone, produced by alpha cells of the pancreas. It works to raise the concentration of glucose and fatty acids in the bloodstream, and is considered to be the main catabolic hormone of the body. It is also used as a medication to treat a number of health conditions.

Biological molecules that lower amount the energy required for a reaction to occur.

Created by: CK-12/Adapted by Christine Miller

Figure 6.7.1 Men from Maasai Mara, Kenya.

Built for Heat

These tall, slender men live near the equator in Kenya, East Africa — one of the hottest regions of the world. These and the other people of his tribal group, called the Maasai, are among the tallest, most linear people on the planet. Their body build is thought to be an adaptation to their climate, which is hot year-round.

Climate refers to the average weather conditions in a region over a long period of time. One of the main determinants of climate is temperature. Both hot and cold temperatures are serious environmental stresses on the human body.

In the cold, there is risk of hypothermia, which is a dangerous decrease in core body temperature. The normal temperature of the human body is 37 degrees C (98.6 degrees F). Hypothermia sets in when body temperature drops to 34.4 degrees C (94 degrees F). If body temperature falls below 29.4 degrees C (85 degrees F), it starts to cool very rapidly because the body’s temperature regulation mechanism starts to fail.

The opposite problem occurs in the heat, where the risk is hyperthermia, which is a dangerous increase in core body temperature. If human body temperature rises above about 40.6 degrees C (105 degrees F), hyperthermia may become life threatening. If a temperature this high persists more than a few days, it generally damages the brain and other internal organs, leading to death.

Humans are the most widespread species on the planet, and they have lived in extreme climates for tens of thousands of years. As a result, many human populations have had to cope with extreme temperatures for hundreds of generations, which has forced them to develop genetic adaptations to these climate extremes.

The size and proportions of the human body may play an important role in how well an individual is able to handle hot or cold temperatures. In general, people with a tall, slender build, like the Maasai man pictured in Figure 6.7.1, are well adapted to heat, whereas people with a short, stocky build (like the Indigenous North American Inuit pictured in Figure 6.7.2) are well adapted to cold. These relationships between body build and climate were first noticed in other animal species in the 1800s by biologists Carl Bergmann and Joel Allen. These scientists formulated what are now known as Bergmann’s and Allen’s rules.

Figure 6.7.2 Indigenous North American Inuit.

Bergmann’s Rule

Bergmann's rule states that within a broadly distributed taxonomic group, populations or species of larger size are found in colder environments, whereas populations or species of smaller size are found in warmer environments. Bergmann’s rule has been shown to generally apply to widespread species of mammals and birds, although there are also many exceptions to the rule.

What explains Bergmann’s rule? Larger animals have a lower surface area to volume ratio than smaller animals, which is illustrated in Table 6.7.1 for a simple shape, a cube. From the table, you can see how the surface area to volume ratio of a cube decreases dramatically as the size of the cube increases. Because heat is lost through the surface of the body, an animal with a smaller surface area to volume ratio radiates less body heat per unit of mass. The larger body mass also allows the animal to generate more heat. A larger animal has more cells, so it can produce more body heat as a byproduct of cellular metabolism. Both of these factors allow a larger animal to stay warmer in a cold climate.

Table 6.7.1

Relationship of Surface Area to Volume in Cubes of Different Sizes

Warmer climates impose the opposite problem: body heat generated by metabolism needs to be dissipated quickly rather than stored within the body. Smaller animals have a higher surface area to volume ratio that maximizes heat loss through the surface of the body and helps cool the body. With less mass and fewer cells, smaller animals also generate less heat due to cellular metabolism.

Anthropologists have found that many human populations tend to follow Bergmann’s rule. For example, a study of 100 human populations in the 1950s found a strong negative correlation between mean body mass and average yearly temperature. In other words, higher body mass was generally found in colder places, and lower body mass was generally found in hotter places.

There are also exceptions to the rule, in part because we use cultural responses to temper environmental stresses so we do not need to change genetically or physiologically in order to cope. Humans, for example, use clothing and heated buildings to stay warm in cold climates, which tends to counter the effects of natural selection changing human body shape in cold climates.

Allen’s Rule

Allen’s rule is a corollary of Bergmann’s rule. It states that animals living in hotter climates generally have longer extremities (such as limbs, tails, snouts, and ears) than closely related animals living in colder climates. The explanation for Allen’s rule is similar to the rationale behind Bergmann’s rule. Longer extremities maximize an animal’s surface area, allowing greater heat loss through the surface of the body. Therefore, having long extremities is adaptive in hot climates where the main challenge is dissipating body heat.

Anthropologists have noted that, in populations that have lived in tropical regions for long periods of time, the limbs of people tend to be longer in proportion to overall body height. The Maasai man pictured in Figure 6.7.1 is a clear example. His exceptionally long limbs — like those of other members of his population — are optimally proportioned for the hot climate in Kenya. The shorter-limbed body proportions of the Inuit people (Figure 6.7.2) suit them well for their cold climate. Marked differences in limb length have also been observed in related populations that have lived for long periods of time at different altitudes. High altitudes have colder climates than lower altitudes and — consistent with Allen's rule —people tend to have shorter limbs at higher altitudes.

Humans exhibit several other responses to high temperatures that are generally considered either short-term physiological responses or examples of longer-term acclimatization.

Sweating and Humidity

Because humans are basically tropical animals, we generally have an easier time dealing with excessive heat than excessive cold. Evaporation of sweat is the main way we cool the body. The dancer in Figure 6.7.4 is sweating copiously while working out in a hot environment. Why does sweating cool us? When sweat evaporates from the skin, it requires heat. The heat comes from the surface of the body, resulting in evaporative cooling.

The heat index (HI) is a number that combines air temperature and relative humidity to indicate how hot the air feels due to the humidity. The heat index is also called "apparent temperature.” Figure 6.7.5 shows the heat index at different combinations of air temperature and relative humidity. As you can see, when the humidity is very high, even a 90-degree F (32 degrees C) temperature can be very dangerous.

If humidity is low, evaporation of sweat can be an effective way to keep the body from overheating. However, the loss of water and salts in sweat can also be dangerous. In very hot conditions, an adult may lose up to four litres of sweat per hour and up to 14 litres per day. Such water losses may cause severe dehydration if the water is not replaced by drinking much more than usual. The loss of salts may also upset the normal salt balance in the body, which can be dangerous. Becoming acclimatized to heat by gradually increasing the exposure time to high temperatures — particularly while exercising or doing physical work — can reduce the risk of these effects.

It may take up to 14 days to attain maximum heat acclimatization. As the body becomes acclimatized, sweat output increases, and sweating begins sooner. The salt content of the sweat also declines, as does the output of urine. These and other physiological changes help the body lose heat through the evaporation of sweat, while maintaining the proper balance of salts and fluids in the body. There may also be increased blood flow to the body surface through the widening of blood vessels near the skin. This is called vasodilation. This brings more heat from the body core to the skin, and from there it may be radiated out into the environment.

Becoming acclimatized to heat allows one to safely perform more exercise or work in the heat. It also helps prevent heat-related illnesses by reducing strain on the body. Heat-related illnesses — from least to most serious — include heat cramps, heat exhaustion, and heat stroke.

• Heat cramps are muscle spasms caused by loss of water and salts. They often follow prolonged sweating brought on by over-exertion in hot weather.
• Heat exhaustion is a condition in which over-heating of the body causes dizziness, headache, profuse sweating, rapid heartbeat. and other symptoms. Without prompt treatment, heat exhaustion can lead to heat stroke.
• Heat stroke is potentially life threatening and a medical emergency. Heat stroke results from prolonged exposure to high temperatures, usually in combination with dehydration. It leads to failure of the body's temperature control system and is diagnosed when the core body temperature exceeds 105 degrees F (40 degrees C). Symptoms may include nausea, seizures, confusion, disorientation, and coma.

Acclimatization to heat, like other types of acclimatization, is a reversible process. Just as quickly as heat acclimatization occurs, the physiological changes fade away in the absence of heat exposure. The body returns to its baseline state within a week or two of no longer exercising or working at high temperatures.

Besides genetic difference in body build, there are two major ways the human body can respond to the cold. One way is by producing more body heat, and the other way is by conserving more body heat. An immediate response to cooling of the body is shivering. This is an involuntary and simultaneous contraction of many tiny muscles in the body. These muscle contractions generate a small amount of heat. Another early response to cold temperature is a narrowing of blood vessels near the skin. This is called vasoconstriction. This helps to shunt blood away from the body surface so more heat is held at the body core. The skin cools down and radiates less heat into the environment.

Hunting Response

At temperatures below freezing, vasoconstriction can be dangerous if it lasts too long. The extremities become too cold because of lack of blood flow, and cold injury (such as frostbite) may occur. Frostbite is tissue destruction that occurs when tissue freezes. You can see a mild-to-moderate case of frostbite of the fingers in Figure 6.7.7. If frostbite is severe, it may lead to gangrene and amputation of the affected extremities.

The body counters the possibility of cold injury with a reaction called the hunting response. This is a process of alternating vasoconstriction and vasodilation in extremities exposed to cold. About five to ten minutes after the start of cold exposure, the blood vessels in the extremities suddenly dilate, which increases blood flow and subsequently the temperature of the extremities. This is soon followed by another phase of vasoconstriction, and then the process repeats.

The hunting response occurs in most people, but several factors may influence the strength of the response. People who live or work regularly in cold environments show an increased hunting response. Through acclimatization, however, tropical residents can develop an increased response, which is indistinguishable from that of arctic residents. Genetic factors may play a role in the hunting response, but this is uncertain because it is difficult to differentiate between adaptation and acclimatization.

Persistent Vasoconstriction

Where temperatures rarely fall below freezing but are repeatedly very chilly, the hunting response may not occur. Instead, vasoconstriction may persist to keep heat within the body at the expense of cooling the skin. As long as the temperature stays above freezing, cold injury (such as frostbite) will not occur. This type of response has been shown to occur in indigenous desert dwellers in southern Africa and Australia, where the temperature is hot during the day and very cold at night. People in these populations also tend to deposit fat around the organs in their chest and abdomen. The fat serves as insulation, protecting vital structures from the cold.

High-Fat Diet

Besides shivering, another way to increase body heat is to raise the basal metabolic rate. The basal metabolic rate (BMR) is the amount of energy that a person needs to keep the body functioning at rest. The higher the BMR, the more heat the body generates, even without exercise or physical labor. The BMR can be increased by consuming large quantities of high-calorie fatty foods. People living in very cold subarctic regions, including the Inuit, traditionally ate whale and seal blubber and other high-fat foods, which helped them maintain a high BMR and stay warm.

Figure 6.7.8  Whale and seal blubber (mainly on abundant ring seals) is an important part of the traditional Inuit diet. 

Too many news stories report young children being seriously injured or dying from heat stroke in hot vehicles. On average, 38 children die in hot vehicles each year from heat-related deaths after being trapped inside. Most often, this happens by accident, when a parent or caregiver unknowingly leaves a sleeping child in a car. In other cases, children get into cars on their own, and then cannot get out again.

A child’s thermoregulatory system is not as efficient as that of an adult, and a child’s body temperature may increase as much as five times faster. This makes children prime candidates for heat stroke. A motor vehicle is also easily heated by direct sun. The windows of the vehicle allow solar radiation to pass through and heat up objects inside. A dark-coloured dashboard or seat may quickly reach a temperature of more than 180 degrees F (82 degrees C)! These hot surfaces can just as quickly heat the adjacent air, rapidly increasing the temperature of the air trapped inside the vehicle.

Here are several simple tips that parents and caregivers can follow to prevent heat stroke tragedies:

• Never leave children alone in or around cars — not even for a minute.
• Always open the back door and check the back seat before leaving your vehicle to be sure no child has been left behind.
• Put something you will need, such as your cell phone or handbag, in the back seat so you will have to open the back door to retrieve it whenever you park the car.
• Keep a large stuffed animal in the child's car seat, and when the child is placed in the car seat, put the stuffed animal in the front passenger seat as a visual reminder that the child is in the back.
• Make sure you have a strict policy in place with everyone involved in the care of your child that you should always be called whenever your child does not show up at daycare or school as scheduled.
• Keep vehicles locked at all times, even in driveways and garages. Ask home visitors, child care providers, and neighbors to do the same.
• Keep car keys and remote vehicle openers out of reach of children.
• If a child is missing, immediately check the inside passenger compartments and trunks of all vehicles in the area. Check vehicles even if they are locked, because a child may lock a vehicle after entering and not be able to unlock it again to get out.
• If you see a child alone in a vehicle, call 911 immediately. If the child seems hot or sick, get them out of the vehicle as quickly as possible.
• Pay for gas at the pump and use drive-throughs at the bank, pharmacy, or wherever else they are available.

Attributions

Figure 6.7.1

• Maasai warrior by Ninaras on Wikimedia Commons is used under a CC BY 4.0 (https://creativecommons.org/licenses/by/4.0/deed.en) license.
• Smiling man from Maasai Mara, Kenya by Sneha on Unsplash is used under the Unsplash License (https://unsplash.com/license). 

Figure 6.7.2

• Inuit-Kleidung women by Ansgar Walk on Wikimedia Commons is used under a CC BY-SA 3.0 (https://creativecommons.org/licenses/by-sa/3.0/deed.lv) license.
• Kulusuk, Tunumiit Inuit couple by Arian Zwegers on Wikimedia Commons is used under a CC BY 2.0 (https://creativecommons.org/licenses/by/2.0/deed.en) license.
• Inuit girls by Susan van Gelder on Flickr is used under a CC BY-NC-SA 2.0 (https://creativecommons.org/licenses/by-nc-sa/2.0/) license.

Figure 6.7.3

Bergmann’s_rule_-_Canis_lupus by Dhaval Vargiya at Yellowstone National Park on Wikimedia Commons is in the public domain (https://en.wikipedia.org/wiki/Public_domain).

Figure 6.7.4

Sweating [photo] by Avi Richards on Unsplash is used under the Unsplash License (https://unsplash.com/license). 

Figure 6.7.5

Heat_Index by U.S. National Oceanic and Atmospheric Administration (NOAA) on Wikimedia Commons is in the public domain (https://en.wikipedia.org/wiki/Public_domain).

Figure 6.7.6

Thirsty [photo] by Dylan Alcock on Unsplash is used under the Unsplash License (https://unsplash.com/license). 

Figure 6.7.7

Frostbitten_hands by Winky from Oxford, UK on Wikimedia Commons is used under a CC BY 2.0 (https://creativecommons.org/licenses/by/2.0/deed.en) license.

Figure 6.7.8

• Ringed seal preparation by Ansgar Walk on Wikimedia Commons is used under a CC BY-SA 2.5 (https://creativecommons.org/licenses/by-sa/2.5/deed.en) license.
• Butchering a narwhal by Spencer & Carole on Flickr is used under a CC BY-NC-SA 2.0 (https://creativecommons.org/licenses/by-nc-sa/2.0/) license.
• Inuit children playing while the family is on seal hunt, by GRID-Arendal on Flickr is used under a CC BY-NC-SA 2.0 (https://creativecommons.org/licenses/by-nc-sa/2.0/) license.

References

It's Okay To Be Smart. (2017, January 9). How an igloo keeps you warm. YouTube. https://www.youtube.com/watch?v=1L7EI0vKVuU&feature=youtu.be

National Geographic. (2014, April 7). Hailstones' Inupiaq traditions | Life below zero. YouTube. https://www.youtube.com/watch?v=_Ifq73REJiM&feature=youtu.be

TED-Ed. (2014, July 21). What happens when you get heat stroke? - Douglas J. Casa. YouTube. https://www.youtube.com/watch?v=PpHM4DfPZQU&feature=youtu.be

TED-Ed. (2018, May 15). Why do we sweat? - John Murnan. YouTube. https://www.youtube.com/watch?v=fctH_1NuqCQ&feature=youtu.be

Wim Hof. (2011, June 19). Wim Hof Method. YouTube. https://www.youtube.com/watch?v=j3sY67aGFXY&feature=youtu.be

Figure 6.7.1 Men from Maasai Mara, Kenya.

Built for Heat

These tall, slender men live near the equator in Kenya, East Africa — one of the hottest regions of the world. These and the other people of his tribal group, called the Maasai, are among the tallest, most linear people on the planet. Their body build is thought to be an adaptation to their climate, which is hot year-round.

Climate refers to the average weather conditions in a region over a long period of time. One of the main determinants of climate is temperature. Both hot and cold temperatures are serious environmental stresses on the human body.

In the cold, there is risk of hypothermia, which is a dangerous decrease in core body temperature. The normal temperature of the human body is 37 degrees C (98.6 degrees F). Hypothermia sets in when body temperature drops to 34.4 degrees C (94 degrees F). If body temperature falls below 29.4 degrees C (85 degrees F), it starts to cool very rapidly because the body’s temperature regulation mechanism starts to fail.

The opposite problem occurs in the heat, where the risk is hyperthermia, which is a dangerous increase in core body temperature. If human body temperature rises above about 40.6 degrees C (105 degrees F), hyperthermia may become life threatening. If a temperature this high persists more than a few days, it generally damages the brain and other internal organs, leading to death.

Humans are the most widespread species on the planet, and they have lived in extreme climates for tens of thousands of years. As a result, many human populations have had to cope with extreme temperatures for hundreds of generations, which has forced them to develop genetic adaptations to these climate extremes.

The size and proportions of the human body may play an important role in how well an individual is able to handle hot or cold temperatures. In general, people with a tall, slender build, like the Maasai man pictured in Figure 6.7.1, are well adapted to heat, whereas people with a short, stocky build (like the Indigenous North American Inuit pictured in Figure 6.7.2) are well adapted to cold. These relationships between body build and climate were first noticed in other animal species in the 1800s by biologists Carl Bergmann and Joel Allen. These scientists formulated what are now known as Bergmann’s and Allen’s rules.

Figure 6.7.2 Indigenous North American Inuit.

Bergmann’s Rule

Bergmann's rule states that within a broadly distributed taxonomic group, populations or species of larger size are found in colder environments, whereas populations or species of smaller size are found in warmer environments. Bergmann’s rule has been shown to generally apply to widespread species of mammals and birds, although there are also many exceptions to the rule.

What explains Bergmann’s rule? Larger animals have a lower surface area to volume ratio than smaller animals, which is illustrated in Table 6.7.1 for a simple shape, a cube. From the table, you can see how the surface area to volume ratio of a cube decreases dramatically as the size of the cube increases. Because heat is lost through the surface of the body, an animal with a smaller surface area to volume ratio radiates less body heat per unit of mass. The larger body mass also allows the animal to generate more heat. A larger animal has more cells, so it can produce more body heat as a byproduct of cellular metabolism. Both of these factors allow a larger animal to stay warmer in a cold climate.

Table 6.7.1

Relationship of Surface Area to Volume in Cubes of Different Sizes

Warmer climates impose the opposite problem: body heat generated by metabolism needs to be dissipated quickly rather than stored within the body. Smaller animals have a higher surface area to volume ratio that maximizes heat loss through the surface of the body and helps cool the body. With less mass and fewer cells, smaller animals also generate less heat due to cellular metabolism.

Anthropologists have found that many human populations tend to follow Bergmann’s rule. For example, a study of 100 human populations in the 1950s found a strong negative correlation between mean body mass and average yearly temperature. In other words, higher body mass was generally found in colder places, and lower body mass was generally found in hotter places.

There are also exceptions to the rule, in part because we use cultural responses to temper environmental stresses so we do not need to change genetically or physiologically in order to cope. Humans, for example, use clothing and heated buildings to stay warm in cold climates, which tends to counter the effects of natural selection changing human body shape in cold climates.

Allen’s Rule

Allen’s rule is a corollary of Bergmann’s rule. It states that animals living in hotter climates generally have longer extremities (such as limbs, tails, snouts, and ears) than closely related animals living in colder climates. The explanation for Allen’s rule is similar to the rationale behind Bergmann’s rule. Longer extremities maximize an animal’s surface area, allowing greater heat loss through the surface of the body. Therefore, having long extremities is adaptive in hot climates where the main challenge is dissipating body heat.

Anthropologists have noted that, in populations that have lived in tropical regions for long periods of time, the limbs of people tend to be longer in proportion to overall body height. The Maasai man pictured in Figure 6.7.1 is a clear example. His exceptionally long limbs — like those of other members of his population — are optimally proportioned for the hot climate in Kenya. The shorter-limbed body proportions of the Inuit people (Figure 6.7.2) suit them well for their cold climate. Marked differences in limb length have also been observed in related populations that have lived for long periods of time at different altitudes. High altitudes have colder climates than lower altitudes and — consistent with Allen's rule —people tend to have shorter limbs at higher altitudes.

Humans exhibit several other responses to high temperatures that are generally considered either short-term physiological responses or examples of longer-term acclimatization.

Sweating and Humidity

Because humans are basically tropical animals, we generally have an easier time dealing with excessive heat than excessive cold. Evaporation of sweat is the main way we cool the body. The dancer in Figure 6.7.4 is sweating copiously while working out in a hot environment. Why does sweating cool us? When sweat evaporates from the skin, it requires heat. The heat comes from the surface of the body, resulting in evaporative cooling.

The heat index (HI) is a number that combines air temperature and relative humidity to indicate how hot the air feels due to the humidity. The heat index is also called "apparent temperature.” Figure 6.7.5 shows the heat index at different combinations of air temperature and relative humidity. As you can see, when the humidity is very high, even a 90-degree F (32 degrees C) temperature can be very dangerous.

If humidity is low, evaporation of sweat can be an effective way to keep the body from overheating. However, the loss of water and salts in sweat can also be dangerous. In very hot conditions, an adult may lose up to four litres of sweat per hour and up to 14 litres per day. Such water losses may cause severe dehydration if the water is not replaced by drinking much more than usual. The loss of salts may also upset the normal salt balance in the body, which can be dangerous. Becoming acclimatized to heat by gradually increasing the exposure time to high temperatures — particularly while exercising or doing physical work — can reduce the risk of these effects.

It may take up to 14 days to attain maximum heat acclimatization. As the body becomes acclimatized, sweat output increases, and sweating begins sooner. The salt content of the sweat also declines, as does the output of urine. These and other physiological changes help the body lose heat through the evaporation of sweat, while maintaining the proper balance of salts and fluids in the body. There may also be increased blood flow to the body surface through the widening of blood vessels near the skin. This is called vasodilation. This brings more heat from the body core to the skin, and from there it may be radiated out into the environment.

Becoming acclimatized to heat allows one to safely perform more exercise or work in the heat. It also helps prevent heat-related illnesses by reducing strain on the body. Heat-related illnesses — from least to most serious — include heat cramps, heat exhaustion, and heat stroke.

• Heat cramps are muscle spasms caused by loss of water and salts. They often follow prolonged sweating brought on by over-exertion in hot weather.
• Heat exhaustion is a condition in which over-heating of the body causes dizziness, headache, profuse sweating, rapid heartbeat. and other symptoms. Without prompt treatment, heat exhaustion can lead to heat stroke.
• Heat stroke is potentially life threatening and a medical emergency. Heat stroke results from prolonged exposure to high temperatures, usually in combination with dehydration. It leads to failure of the body's temperature control system and is diagnosed when the core body temperature exceeds 105 degrees F (40 degrees C). Symptoms may include nausea, seizures, confusion, disorientation, and coma.

Acclimatization to heat, like other types of acclimatization, is a reversible process. Just as quickly as heat acclimatization occurs, the physiological changes fade away in the absence of heat exposure. The body returns to its baseline state within a week or two of no longer exercising or working at high temperatures.

Besides genetic difference in body build, there are two major ways the human body can respond to the cold. One way is by producing more body heat, and the other way is by conserving more body heat. An immediate response to cooling of the body is shivering. This is an involuntary and simultaneous contraction of many tiny muscles in the body. These muscle contractions generate a small amount of heat. Another early response to cold temperature is a narrowing of blood vessels near the skin. This is called vasoconstriction. This helps to shunt blood away from the body surface so more heat is held at the body core. The skin cools down and radiates less heat into the environment.

Hunting Response

At temperatures below freezing, vasoconstriction can be dangerous if it lasts too long. The extremities become too cold because of lack of blood flow, and cold injury (such as frostbite) may occur. Frostbite is tissue destruction that occurs when tissue freezes. You can see a mild-to-moderate case of frostbite of the fingers in Figure 6.7.7. If frostbite is severe, it may lead to gangrene and amputation of the affected extremities.

The body counters the possibility of cold injury with a reaction called the hunting response. This is a process of alternating vasoconstriction and vasodilation in extremities exposed to cold. About five to ten minutes after the start of cold exposure, the blood vessels in the extremities suddenly dilate, which increases blood flow and subsequently the temperature of the extremities. This is soon followed by another phase of vasoconstriction, and then the process repeats.

The hunting response occurs in most people, but several factors may influence the strength of the response. People who live or work regularly in cold environments show an increased hunting response. Through acclimatization, however, tropical residents can develop an increased response, which is indistinguishable from that of arctic residents. Genetic factors may play a role in the hunting response, but this is uncertain because it is difficult to differentiate between adaptation and acclimatization.

Persistent Vasoconstriction

Where temperatures rarely fall below freezing but are repeatedly very chilly, the hunting response may not occur. Instead, vasoconstriction may persist to keep heat within the body at the expense of cooling the skin. As long as the temperature stays above freezing, cold injury (such as frostbite) will not occur. This type of response has been shown to occur in indigenous desert dwellers in southern Africa and Australia, where the temperature is hot during the day and very cold at night. People in these populations also tend to deposit fat around the organs in their chest and abdomen. The fat serves as insulation, protecting vital structures from the cold.

High-Fat Diet

Besides shivering, another way to increase body heat is to raise the basal metabolic rate. The basal metabolic rate (BMR) is the amount of energy that a person needs to keep the body functioning at rest. The higher the BMR, the more heat the body generates, even without exercise or physical labor. The BMR can be increased by consuming large quantities of high-calorie fatty foods. People living in very cold subarctic regions, including the Inuit, traditionally ate whale and seal blubber and other high-fat foods, which helped them maintain a high BMR and stay warm.

Figure 6.7.8  Whale and seal blubber (mainly on abundant ring seals) is an important part of the traditional Inuit diet. 

Too many news stories report young children being seriously injured or dying from heat stroke in hot vehicles. On average, 38 children die in hot vehicles each year from heat-related deaths after being trapped inside. Most often, this happens by accident, when a parent or caregiver unknowingly leaves a sleeping child in a car. In other cases, children get into cars on their own, and then cannot get out again.

A child’s thermoregulatory system is not as efficient as that of an adult, and a child’s body temperature may increase as much as five times faster. This makes children prime candidates for heat stroke. A motor vehicle is also easily heated by direct sun. The windows of the vehicle allow solar radiation to pass through and heat up objects inside. A dark-coloured dashboard or seat may quickly reach a temperature of more than 180 degrees F (82 degrees C)! These hot surfaces can just as quickly heat the adjacent air, rapidly increasing the temperature of the air trapped inside the vehicle.

Here are several simple tips that parents and caregivers can follow to prevent heat stroke tragedies:

• Never leave children alone in or around cars — not even for a minute.
• Always open the back door and check the back seat before leaving your vehicle to be sure no child has been left behind.
• Put something you will need, such as your cell phone or handbag, in the back seat so you will have to open the back door to retrieve it whenever you park the car.
• Keep a large stuffed animal in the child's car seat, and when the child is placed in the car seat, put the stuffed animal in the front passenger seat as a visual reminder that the child is in the back.
• Make sure you have a strict policy in place with everyone involved in the care of your child that you should always be called whenever your child does not show up at daycare or school as scheduled.
• Keep vehicles locked at all times, even in driveways and garages. Ask home visitors, child care providers, and neighbors to do the same.
• Keep car keys and remote vehicle openers out of reach of children.
• If a child is missing, immediately check the inside passenger compartments and trunks of all vehicles in the area. Check vehicles even if they are locked, because a child may lock a vehicle after entering and not be able to unlock it again to get out.
• If you see a child alone in a vehicle, call 911 immediately. If the child seems hot or sick, get them out of the vehicle as quickly as possible.
• Pay for gas at the pump and use drive-throughs at the bank, pharmacy, or wherever else they are available.

Attributions

Figure 6.7.1

• Maasai warrior by Ninaras on Wikimedia Commons is used under a CC BY 4.0 (https://creativecommons.org/licenses/by/4.0/deed.en) license.
• Smiling man from Maasai Mara, Kenya by Sneha on Unsplash is used under the Unsplash License (https://unsplash.com/license). 

Figure 6.7.2

• Inuit-Kleidung women by Ansgar Walk on Wikimedia Commons is used under a CC BY-SA 3.0 (https://creativecommons.org/licenses/by-sa/3.0/deed.lv) license.
• Kulusuk, Tunumiit Inuit couple by Arian Zwegers on Wikimedia Commons is used under a CC BY 2.0 (https://creativecommons.org/licenses/by/2.0/deed.en) license.
• Inuit girls by Susan van Gelder on Flickr is used under a CC BY-NC-SA 2.0 (https://creativecommons.org/licenses/by-nc-sa/2.0/) license.

Figure 6.7.3

Bergmann’s_rule_-_Canis_lupus by Dhaval Vargiya at Yellowstone National Park on Wikimedia Commons is in the public domain (https://en.wikipedia.org/wiki/Public_domain).

Figure 6.7.4

Sweating [photo] by Avi Richards on Unsplash is used under the Unsplash License (https://unsplash.com/license). 

Figure 6.7.5

Heat_Index by U.S. National Oceanic and Atmospheric Administration (NOAA) on Wikimedia Commons is in the public domain (https://en.wikipedia.org/wiki/Public_domain).

Figure 6.7.6

Thirsty [photo] by Dylan Alcock on Unsplash is used under the Unsplash License (https://unsplash.com/license). 

Figure 6.7.7

Frostbitten_hands by Winky from Oxford, UK on Wikimedia Commons is used under a CC BY 2.0 (https://creativecommons.org/licenses/by/2.0/deed.en) license.

Figure 6.7.8

• Ringed seal preparation by Ansgar Walk on Wikimedia Commons is used under a CC BY-SA 2.5 (https://creativecommons.org/licenses/by-sa/2.5/deed.en) license.
• Butchering a narwhal by Spencer & Carole on Flickr is used under a CC BY-NC-SA 2.0 (https://creativecommons.org/licenses/by-nc-sa/2.0/) license.
• Inuit children playing while the family is on seal hunt, by GRID-Arendal on Flickr is used under a CC BY-NC-SA 2.0 (https://creativecommons.org/licenses/by-nc-sa/2.0/) license.

References

It's Okay To Be Smart. (2017, January 9). How an igloo keeps you warm. YouTube. https://www.youtube.com/watch?v=1L7EI0vKVuU&feature=youtu.be

National Geographic. (2014, April 7). Hailstones' Inupiaq traditions | Life below zero. YouTube. https://www.youtube.com/watch?v=_Ifq73REJiM&feature=youtu.be

TED-Ed. (2014, July 21). What happens when you get heat stroke? - Douglas J. Casa. YouTube. https://www.youtube.com/watch?v=PpHM4DfPZQU&feature=youtu.be

TED-Ed. (2018, May 15). Why do we sweat? - John Murnan. YouTube. https://www.youtube.com/watch?v=fctH_1NuqCQ&feature=youtu.be

Wim Hof. (2011, June 19). Wim Hof Method. YouTube. https://www.youtube.com/watch?v=j3sY67aGFXY&feature=youtu.be

Image shows a photograph of a young child drinking milk from a cup. He has milk on his upper lip. It is adorable.

Image shows a worldwide map of lactose intolerance. In east asia, south africa and southern south america, lactose intolerance rates are highest (80-100%). In Northern Asia, Europe, and North America, lactose intolerance rates are the loweest (0-40%)

The image shows a diagram of lactose conversion to galactose and glucose by the help of the enzyme lactase.

Got Lactase?

Do you remember the American “got milk?” slogan from the 1990s?  It was used in advertisements for milk in which celebrities were pictured wearing milk “mustaches.” While the purpose of the “got milk?” ads was to sell more milk, there is no denying that drinking milk can actually be good for one’s health. Milk is naturally high in protein and minerals. It can also be low in fat or even fat-free if treated to remove the lipids that naturally occur in milk. However, before you reach for a tall, cold glass of milk,  you might want to ask yourself another question: “got lactase?”

Do you drink milk? Or do you avoid drinking milk and consuming milk products because they cause you discomfort? If the latter is the case, then you may have trouble digesting milk.

Milk, Lactose, and Lactase

Milk naturally contains more than just proteins and lipids — it also contains carbohydrates. Specifically, milk contains the sugar lactose, which is a disaccharide (two-sugar) compound that consists of one molecule each of galactose and glucose, as shown in the structural formula below (Figure 6.8.2). Lactose makes up between two and eight per cent of milk by weight. The exact amount varies both within and between species.

Lactose Intolerance

Lactose intolerance is the inability of older children and adults to digest lactose in milk. People who are lactose intolerant may be able to drink small quantities of milk without any problems, but if they try to consume larger amounts, they are likely to suffer adverse effects. For example, they may have abdominal bloating and cramping, flatulence (gas), diarrhea, nausea, and vomiting. The symptoms may occur from 30 minutes to two hours after milk is consumed, and they're generally worse when the quantity of milk consumed is greater. The symptoms result from the small intestine's inability to digest and absorb lactose, so the lactose is passed on to the large intestine, where normal intestinal bacteria start breaking it down through the process of fermentation. This process releases gas and causes the other symptoms of lactose intolerance.

Lactose intolerance is actually the original and normal condition of the human species, as well as all other mammalian species. Early humans were hunter-gatherers that subsisted on wild plant and animal foods. The animal foods may have included meat and eggs, but did not include milk because animals had not been domesticated. Therefore, beyond the weaning period, milk was not available for people to drink in early human populations. It makes good biological sense to stop synthesizing an enzyme that the body does not need. After a young child is weaned, it is a waste of materials and energy to keep producing lactase when milk is no longer likely to be consumed.

Overall, an estimated 60 per cent of the world’s adult human population is thought to be lactose intolerant today. You can see the geographic distribution of modern human lactose intolerance on the map in Figure 6.8.4. Lactose intolerance (dark blue) approaches 100 per cent in populations throughout southern South America, southern Africa, and East and Southeast Asia.

Lactose intolerance is not considered a medical problem, because its symptoms can be avoided by avoiding milk or milk products. Dietary control of lactose intolerance may be a matter of trial and error, however, because different people may be able to consume different quantities of milk or milk products before symptoms occur. If you are lactose intolerant, be aware that low-fat and fat-free milk may contain somewhat more lactose than full-fat milk because the former often have added milk solids that are relatively high in lactose.

Lactase Persistence

Lactase persistence is the opposite of lactose intolerance. People who are lactase persistent continue to produce the enzyme lactase beyond infancy and generally throughout life. As a consequence they are able to digest lactose and drink milk at older ages without adverse effects. The map in Figure 6.8.4 can also be read to show where lactase persistence occurs today. Populations with a low percentage of lactose intolerance (including most North Americans and Western and Northern Europeans) have high percentages of lactase-persistent people.

Lactase persistence is a uniquely human trait that is not found in any other mammalian species. Why did lactase persistence evolve in humans? When some human populations began domesticating and keeping herds of animals, animal milk became a potential source of food. Animals such as cows, sheep, goats, camels, and even reindeer (see Figure 6.8.5) can be kept for their milk. These animal milks also contain lactose, so natural selection would be strong for any individuals who kept producing lactase beyond infancy and could make use of this nutritious food. Eventually, the trait of lactase persistence would increase in frequency and come to be the predominant trait in dairying populations.

It is likely that lactase persistence occurs as a result of both genes and environment. Some people inherit genes that help them keep producing lactase after infancy. Geneticists think that several different mutations for lactase persistence arose independently in different populations within the last ten thousand years. Part of lactase persistence may be due to continued exposure to milk in the childhood and adulthood diet. In other words, a person may be genetically predisposed to synthesize lactase at older ages because of a mutation, but they may need the continued stimulation of milk drinking to keep producing lactase.

Besides variation in lactase persistence, human populations may vary in how efficiently they use calories in the foods they consume. People in some populations seem able to get by on quantities of food that would be inadequate for others, so they tend to gain weight easily. What explains these differences in people?

Thrifty Gene Hypothesis

In 1962, human geneticist James Neel proposed the thrifty gene hypothesis. According to this hypothesis, so-called “thrifty genes” evolved in some human populations because they allowed people to get by on fewer calories and store the rest as body fat when food was plentiful. According to Neel’s hypothesis, thrifty genes would have increased in frequency through natural selection, because they would help people survive during times of famine. People with the genes would be fatter and able to rely on their stored body fat for calories when food was scarce.

Such thrifty genes would have been advantageous in early human populations of hunter-gatherers if food scarcity was a recurrent stress. However, in modern times, when most people have access to enough food year-round, thrifty genes would no longer be advantageous. In fact, under conditions of plentiful food, having thrifty genes would predispose people to gain weight and develop obesity. They would also tend to develop the chronic diseases associated with obesity, particularly type II diabetes. Diabetes mellitus is a disease that occurs when there are problems with the pancreatic hormone insulin, which normally helps cells take up glucose from the blood and controls blood glucose levels. In type II diabetes, body cells become relatively resistant to insulin, leading to high blood glucose. This causes symptoms like excessive thirst and urination. Without treatment, diabetes can lead to serious consequences, such as blindness and kidney failure.

Neel proposed his thrifty gene hypothesis not on the basis of genetic evidence for thrifty genes, but as a possible answer to the mystery of why genes that seem to promote diabetes have not been naturally selected out of some populations. The mystery arose from observations that certain populations — such as South Pacific Islanders, sub-Saharan Africans, and southwestern Native Americans — developed high levels of obesity and diabetes after they abandoned traditional diets and adopted Western diets.

Assessing the Thrifty Gene Hypothesis

One of the assumptions underlying the thrifty gene hypothesis is that human populations that recently developed high rates of obesity and diabetes after Western contact had a long history of recurrent famine. Anthropological evidence contradicts this assumption for at least some of the populations in question. South Pacific Islanders, for example, have long lived in a “land of plenty,” with lush tropical forests year-round on islands surrounded by warm waters full of fish. Another assumption underlying the thrifty gene hypothesis is that hunter-gatherer people became significantly fatter during periods of plenty. Again, there is little or no evidence that hunter-gatherers traditionally deposited large fat stores when food was readily available.

Some geneticists have searched directly for so-called thrifty genes. Studies have revealed many genes with small effects associated with obesity or diabetes. However, these genes can explain only a few percentage points of the total population variation in obesity or diabetes.

The Drifty Gene and Other Hypotheses

Given the lack of evidence for the thrifty gene hypothesis, several researchers have suggested alternative hypotheses to explain population variation in obesity and diabetes. One hypothesis posits that susceptibility to obesity and diabetes may be a side effect of heat adaptation. According to this idea, some populations evolved lower metabolic rates as an adaptation to heat stress, because lower metabolic rates reduced the amount of heat that the body produced. The lower metabolic rates also predisposed people to gain excess weight and develop obesity and diabetes.

A thrifty phenotype hypothesis has also been proposed. This hypothesis suggests that individuals who have inadequate nutrition during fetal development might develop an insulin-resistant phenotype. The insulin-resistant phenotype would supposedly prepare these individuals for a life of famine, based on the environment within the womb. In a famine-free environment, however, the thrifty phenotype would lead to the development of diabetes.

The most recent alternative to the thrifty gene hypothesis is the drifty gene hypothesis, which was proposed by biologist John Speakman. He argues that genes protecting humans from obesity were under strong natural selection pressure for a very long period of time while human ancestors were subject to the risk of predation. According to this view, being able to outrun predators would have been an important factor selecting against fatness. When the risk of predation was lessened — perhaps as early as two million years ago — genes keeping fatness in check would no longer be selected for. Without selective pressure for these genes, their frequencies could change randomly due to genetic drift. In some populations, by chance, frequencies of the genes could decrease to relatively low levels, whereas in other populations the frequencies could be much higher.

Myth: Lactose intolerance is an allergy to milk.

Reality: Lactose intolerance is not an allergy because it is not an immune system response. It is a sensitivity to milk caused by lactase deficiency so the sugar in milk cannot be digested. Milk allergy does exist, but it is a different condition that occurs in only about four per cent of people. It results when milk proteins (not milk sugar) trigger an immune reaction. How can you determine whether you have lactose intolerance or milk allergy? If you can drink lactose-free milk without symptoms, it is likely that you are lactose intolerant and not allergic to milk. However, if lactose-free milk also produces symptoms, it is likely that you have milk allergy. Note that it is possible to have both conditions.

Myth: If you are lactose intolerant, you will never be able to drink milk or consume other dairy products without suffering adverse physical symptoms.

Reality: Lactose intolerance does not mean that consuming milk and other dairy products is out of the question. Besides lactose-free milk, which is widely available, many dairy products have relatively low levels of lactose, so you may be able to consume at least small amounts of them without discomfort. You may be able to consume milk in the form of yogurt without any problems because the bacteria in yogurt produce lactase that breaks down the lactose. Greek yogurt may be your best bet, because it is lower in lactose to begin with. Aged cheeses also tend to have relatively low levels of lactose, because of the cheese-making process. Finally, by gradually adding milk or milk products to your diet, you may be able to increase your tolerance to lactose.

Attributions

Figure 6.8.1

IMG_4325 Milk Mustache licking 3 by Cedar Summit Farm on Flickr is used under a CC BY SA 2.0 (https://creativecommons.org/licenses/by-sa/2.0/) license.

Figure 6.8.2

Lactose Haworth by NEUROtiker on Wikimedia Commons is in the public domain (https://en.wikipedia.org/wiki/Public_domain).

Figure 6.8.3

Lactase by Boghog2 on Wikimedia Commons is released into the public domain (https://en.wikipedia.org/wiki/Public_domain).

Figure 6.8.4

Lactose Intolerance by Rainer Z ... on Wikimedia Commons is released into the public domain (https://en.wikipedia.org/wiki/Public_domain).

Figure 6.8.5

Reindeer_herding by Mats Andersson on Wikimedia Commons is used under a CC BY 2.0 (https://creativecommons.org/licenses/by/2.0/deed.en) license.

Figure 6.8.6

Milk Photo [photo] by Eiliv-Sonas Aceron on Unsplash is used under the Unsplash License (https://unsplash.com/license).

References

Great Big Story. (2018, November 29). The last nomadic reindeer herders in the world. YouTube. https://www.youtube.com/watch?v=4O8k9qe8fjI&feature=youtu.be

Super Scienced. (2016, February 26). Why are people lactose intolerant? YouTube. https://www.youtube.com/watch?v=G1NGzycaQV0&feature=youtu.be

National Geographic. (2018, November 27). Experience a traditional whale hunt in northern Alaska | Short film showcase. YouTube. https://www.youtube.com/watch?v=XIYag5MWhPU&feature=youtu.be

TED. (2013, June 25). Peter Attia: What if we're wrong about diabetes? YouTube. https://www.youtube.com/watch?v=UMhLBPPtlrY&feature=youtu.be

Wikipedia contributors. (2019, December 15). James V. Neel. In Wikipedia. https://en.wikipedia.org/w/index.php?title=James_V._Neel&oldid=930860629

Wikipedia contributors. (2020, June 9). John Speakman. In Wikipedia. https://en.wikipedia.org/w/index.php?title=John_Speakman&oldid=961610417

Created by CK-12/Adapted by Christine Miller

Looking at this photo of a football game (Figure 7.1.1), you can see why it is so important that the players wear helmets. As players tackle each other, football often involves forceful impact to the head. This can cause damage to the brain — temporarily (as in the case of a concussion) or long-term and more severe. Helmets are critical in reducing the incidence of traumatic brain injuries (TBIs), but they do not fully prevent them.

As a former professional football player who also played in college and high school, 43-year-old Jayson sustained many high-impact head injuries over the course of his football playing years. A few years ago, Jayson began experiencing a variety of troubling symptoms, including the loss of bladder control (the involuntary leakage of urine), memory loss, and difficulty walking. Symptoms like these are often signs of damage to the nervous system, which includes the brain, spinal cord, and nerves, but they can result from many different types of injuries or diseases that affect the nervous system. In order to treat him properly, Jayson’s doctors needed to do several tests to determine the exact cause of his symptoms. The doctors ordered a spinal tap to see if he had an infection, and an MRI (magnetic resonance imaging) to see if there were any observable problems in and around his brain.

The MRI revealed the cause of Jayson’s symptoms. There are fluid-filled spaces within the brain called ventricles, and compared to normal ventricles, Jayson’s ventricles were enlarged. Based on this observation, along with the results of other tests, Jayson’s doctor diagnosed him with hydrocephalus, a term that literally means “water head.” Hydrocephalus occurs when the fluid that fills the ventricles — called cerebrospinal fluid — builds up excessively, causing the ventricles to become enlarged. This puts pressure on the brain, which can cause a variety of neurological symptoms, including the ones Jayson was experiencing. In Figure 7.1.2, you can see the difference between normal ventricles and ventricles that are enlarged due to hydrocephalus. Notice in the image on the right how the brain becomes “squeezed” due to hydrocephalus.

Hydrocephalus often occurs at birth, as a result of genetic factors or events that occurred during fetal development. Because babies are born with skull bones that are not fully fused, the skull of a baby born with hydrocephalus can expand and relieve some of the pressure on the brain, as reflected in the enlarged head size shown in Figure 7.1.2. Adults have fully fused, inflexible skulls, so when hydrocephalus occurs in an adult, the brain experiences all of the increased pressure.

Why did Jayson develop hydrocephalus? There are many possible causes of hydrocephalus in adults, including tumors, infections, hemorrhages, and TBIs. Given his repeated and long history of football-related TBIs and the absence of any evidence of infection, tumor, or other cause, Jayson’s doctor thinks his head injuries were most likely responsible for his hydrocephalus.

Although hydrocephalus is serious, there are treatments. Read the rest of this chapter to learn about the cells, tissues, organs, cavities, and systems of the body, how they are interconnected, and the importance of keeping the body in a state of homeostasis (or balance). The amount of cerebrospinal fluid in the ventricles is normally kept at a relatively steady level, and the potentially devastating symptoms of hydrocephalus are an example of what can happen when a system in the body becomes unbalanced. At the end of the chapter, you will learn about Jayson’s treatment and prognosis.

Attributions

Figure 7.1.1.

Football tackel [photo] by John Torcasio on Unsplash is used under the Unsplash License (https://unsplash.com/license).

Figure 7.1.2

Hydrocephalus by Centers for Disease Control and Prevention (CDC) on Wikimedia Commons is in the public domain (https://en.wikipedia.org/wiki/Public_domain).

References

Mayo Clinic Staff. (n.d.). Hydrocephalus [online article]. MayoClinic.org. https://www.mayoclinic.org/diseases-conditions/hydrocephalus/symptoms-causes/syc-20373604

Mayo Clinic Staff. (n.d.). Traumatic brain injury [online article]. MayoClinic.org. https://www.mayoclinic.org/diseases-conditions/traumatic-brain-injury/symptoms-causes/syc-20378557

As you have learned in this chapter, humans are much more genetically similar to each other than they are different. Any two people on Earth are 99.9 per cent genetically identical to each other — but the mere 0.1 per cent that is different can be very important, as in the case of bone marrow donation to treat diseases such as leukemia. A good match must exist between a bone marrow donor and recipient in genes that encode for human leukocyte antigen (HLA) proteins. As you have learned, antigens are molecules — often on the surface of cells — that the immune system uses to identify foreign invaders. If a patient receives a bone marrow transplant from a donor that has different types of HLAs than the patient does, antibodies in their immune system will identify the antigens as nonself and will launch an attack on the transplanted cells. Also, since bone marrow produces immune cells, antibodies in the transplanted tissue can actually attack the patient’s own cells using the same mechanism.

As you have also learned, a good HLA match is often difficult to find, even between full siblings.  Finding a match in the registries is particularly hard for non-Caucasian people — and even harder for people from multiethnic backgrounds, such as seven-year-old Mateo, who you read about in the beginning of this chapter. Mateo is of African, Japanese, and Caucasian descent — a relatively rare combination. Because HLA matches are more likely to occur between people of the same ethnicity, the donor registries would ideally have sufficient potential donors from every ethnicity and ethnic combination. Unfortunately, some ethnicities are not sufficiently represented in the donor registry. According to the U.S. National Marrow Donor Program, while 97 per cent of Caucasian patients find a match, the match rate drops to 83 per cent for Hispanic or Latino patients and 76 per cent for African American or black patients. Multi-ethnic patients generally have an even harder time finding a match because the relative rareness of their particular ethnic combination in the general population makes it less likely that enough people of their same ancestry are registered donors.

As you learned in this chapter, human variation has historically been classified in several different ways, some of which resulted from or have contributed to racism. Most biological traits in humans exist on a continuum, and attempting to create biological categories of race based on discrete categories using a handful of traits is generally arbitrary and inaccurate. Gene flow through migration and mating between populations, genetic drift, and natural selection results in a gradual, clinal distribution of many human traits, rather than discrete categories. Mateo, for example, cannot be neatly placed into one racial category or another. Race and ethnic identity, however, remain important social and cultural concepts.

Mateo’s ancestry does play a role in determining his specific types of HLA proteins, and he is more likely to find a bone marrow match with a donor of an ethnic background similar to his own. Although there is much more genetic variation within races than between races, HLA types tend to correlate with ethnicity more than some other traits. As you have seen throughout this chapter, some environmental factors in different geographic regions have provided strong natural selection pressures, resulting in the development of genetic differences between people whose ancestors came from different areas. For example, adaptations to differing UV levels, diseases, altitudes, and climates all likely led to the evolution of human variations in skin colour, blood cells, and body morphology. This type of association between race and ethnicity and genetic variation is similar to the link between ethnicity and HLA type.

Mateo’s family was not able to find a match for him in the bone marrow registries, unlike the little boy pictured in Figure 6.9.1, but they are not giving up hope. His parents have started working with organizations to host bone marrow drives, where potential donors can provide cheek swabs to add themselves to the donor registry. His parents have contacted the news media with Mateo’s story, and family and friends are getting the word out on social media that more donors are needed, particular those with Mateo’s specific combination of ethnicities. They hope that even if they are unable to find a match for Mateo, bringing awareness to the issue may increase the ethnic diversity of the donor registry to save other lives.

You Can Help!

According to the Canadian Blood Services, more donors are needed to join the bone marrow registry.  Currently, there is a need for more young male donors: male stem cell donors are more likely to be matched with recipients because they offer better patient outcomes after transplant.  There is also a need for donors with diverse ethnic backgrounds, particularly Aboriginal, Hispanic, African-Canadian, Filipino, and more.  DIverse donors are needed to acheive the closest possible match for HLA between the donor and the recipient.

Leukemia is not the only disease in which treatment involves bone marrow transplant — this course of action is often taken for conditions such as:

• Aplastic anemia
• Inherited immune system disorders
• Inherited metabolic disorders
• Bone marrow diseases
• Lymphomas

Are you registered? If not, it is a relatively simple process that could save someone’s life. A cheek swab is all that is initially needed. Only about one in 430 potential donors will actually be matched with a patient, and if you are chosen, it means that you are one of the only people on Earth who can donate to this patient because of your genetic similarity! If you decide to donate, bone marrow will either be surgically removed from the back of your pelvic bone, or blood-forming cells will be removed non-surgically from your bloodstream. Most donors are able to return to their normal activities one to seven days after donation — a small price to pay for potentially saving someone’s life!

https://www.youtube.com/watch?v=FyriQibRhLA

Stem cell donation: Step by step, hemaquebec1998, 2015.

https://www.youtube.com/watch?v=rLO0Usg8vcY&feature=emb_logo

Marrow donors talk about donating and the donation process, Be The Match, 2012.

 Attribution

Figure 6.9.1

Give Life - Donner la vie by Andrew Scheer on Wikimedia Commons is used under a CC0 1.0 Universal Public Domain Dedication (https://creativecommons.org/publicdomain/zero/1.0/deed.en) license.

References

Be The Match. (2012, December 19). Marrow donors talk about donating and the donation process. YouTube. https://www.youtube.com/watch?v=rLO0Usg8vcY&feature=youtu.be

Canadian Blood Services. (n.d.). There is an immediate need for blood as demand is rising.  https://www.blood.ca/en

hemaquebec1998. (2015, August 27).Stem cell donation: Step by step. YouTube. https://www.youtube.com/watch?v=FyriQibRhLA&feature=youtu.be