As we have just explored, survival and reproduction at high altitudes present numerous physiological challenges for most humans. The behavioral, acclimatory, and developmental adjustments discussed above are all related to the phenotypic plasticity of the individual; however, most adjustments are temporary in nature and they affect a single individual rather than all individuals within a population. But what if the physiological changes were permanent? What if they affected all members of a population rather than just a single individual? The long-term, microevolutionary (i.e., genetic) changes that occur within a population in response to an environmental stressor are referred to as an adaptation. From an evolutionary standpoint, the term adaptation refers to a phenotypic trait (i.e., physiological/morphological feature or behavior) that has been acted upon by natural selection processes to increase a species’ ability to survive and reproduce within a specific environment. Within the field of physiology, the term adaptation refers to traits that serve to restore homeostasis. The physiology-based interpretation of adaptations presumes that all traits serve a purpose and that all adaptations are beneficial in nature; however, this may be a fallacy, since some traits may be present without clear evidence as to their purpose. As such, during the following discussion of various forms of adaptations in human populations, we will focus our attention on phenotypic traits with an evidence-based purpose.
Adaptation: Altitudinal Adaptation
As mentioned in the previous section, there is genomic research supporting the evolutionary selection of certain phenotypes and their corresponding genotypes within indigenous high-altitude populations across the globe. The following discussion focuses on two high-altitude indigenous populations from Tibet and Ethiopia (Figure 14.9). Although these populations share many common genetic traits based on relatively similar evolutionary histories influenced by similar environmental stressors, there is support for local genetically based adaptation as well, based on different genes being acted upon by environmental stressors that may be unique to Tibet and Ethiopia (Bigham 2016).
Tibetan populations have resided in the Tibetan Plateau and Himalayan Mountain regions at elevations exceeding 4,000 masl (13,100 fasl) for at least the past 7,400 years (Meyer et al. 2017). There is evidence of a genetic exchange event involving Tibetan populations and Denisovans around 48,700 years ago, which introduced a haplogroup involving mutations of the EPAS1 gene (Zhang et al. 2021). The EPAS1 is involved in the regulation of erythrocytes and hemoglobin. For individuals originating in lower-altitude environments, EPAS1 stimulates increased erythrocyte production in high-altitude environments as a temporary acclimatory adjustment. For indigenous high-altitude populations of Tibet, the EPAS1 gene mutation introduced by Denisovan introgression inhibits increased erythrocyte production, which reduces potential negative effects (e.g., stroke or heart attack) associated with long-term high levels of erythrocyte production (Gray et al. 2022; Zhang et al. 2021). The erythrocyte count of high-altitude Tibetans with the EPAS1 point mutation is about the same as for individuals residing at sea level.
Populations indigenous to the Semien Plateau of Ethiopia, such as the Oromo and Amhara, share a similar but not identical EPAS1 point mutation with the Tibetan population (Bigham 2016); however, there is no indication that this mutation was derived from Denisovan introgression. The EPAS1 mutations occurred independently from each other; however, their effects are still similar in that they permit the Tibetan and Ethiopian populations to survive at high altitudes. Not all adaptations are related to life in high-altitude environments, however. In the following sections, we will address two more general examples of adaptation in human populations: variations in skin color and differences in body build.
Adaptation: Skin ToneBasics
When you think about your own skin tone and compare it to members of your family, do you all possess exactly the same shade? Are some members of your family darker than others? What about your friends? Your classmates? Skin tone occurs along a continuum, which is a reflection of the complex evolutionary history of our species. The expression of skin tone is regulated primarily by melanin and hemoglobin. Melanin is a dark brown-black pigment that is produced by the oxidation of certain amino acids (e.g., tyrosine, cysteine, phenylalanine) in melanocytes. Melanocytes are specialized cells located in the base layer (stratum basale) of the skin’s epidermis as well as several other areas within the body (Figure 14.10). Within the melanocytes, melanin is produced in the special organelle called a melanosome. Melanosomes serve as sites for the synthesis, storage, and transportation of melanin. Melanosomes transport the melanin particles through cellular projections to epidermal skin cells (keratinocytes) as well as to the base of the growing hair root. In the eye, however, melanin particles produced by the melanosomes remain present within the iris and are not transported beyond their origin location. The two main forms of melanin related to skin, hair, and eye color are eumelanin and pheomelanin. All humans contain both eumelanin and pheomelanin within their bodies; however, the relative expression of these two forms of melanin determines an individual’s overall coloring. Eumelanin is a brown-to-black colored melanin particle while pheomelanin is more pink-to-red colored. Individuals with darker skin or hair color have a greater expression of eumelanin than those with lighter-colored skin and blonde or red hair.
Although all humans have approximately the same number of melanocytes within their epidermis, the production of melanin by these melanocytes varies. There are two forms of melanogenesis (the process through which melanocytes generate melanin): basal and activated. As discussed previously, the expression of eumelanin and pheomelanin by the melanocytes is genetically regulated through the expression of specific receptors (e.g., MC1R) or other melanocyte components (e.g., MFSD12). Basal melanogenesis is dependent upon an individual’s inherent genetic composition and is not influenced by external factors. Activated melanogenesis occurs in response to ultraviolet radiation (UV) exposure, specifically UV-B (short UV wave) exposure. Increased melanogenesis in response to UV-B exposure serves to provide protection to the skin’s innermost layer called the hypodermis, which lies below the epidermis and dermis (Figure 14.11). Melanin in the skin, specifically eumelanin, effectively absorbs UV-B radiation from light—meaning that it will not reach the hypodermal layer. This effect is often more apparent during periods of the year when people tend to be outside more and the weather is warmer, which leads to most donning fewer protective garments. The exposure of skin to sunlight is, of course, culturally mediated with some cultures encouraging the covering of skin at all times.
As previously noted in this chapter, hemoglobin is an iron-rich protein that binds with oxygen in the bloodstream. For individuals with lighter-colored skin, blood vessels near the surface of the skin and the hemoglobin contained within those vessels is more apparent than in individuals with darker skin. The visible presence of hemoglobin coupled with the pink-to-red tone of the pheomelanin leads to lighter-skinned individuals having a pale pink skin tone. Individuals with lighter skin more readily absorb UV radiation as their basal melanin expression is directed more toward the production of pheomelanin than eumelanin. But why are there so many variations in skin tone in humans? To answer this question, we now turn toward an exploration of an evolutionary-based adaptation of skin tone as a function of the environment.
Adaptation: Evolutionary Basis for Skin Tone Variation
Skin cancer is a significant concern for many individuals with light skin tone as the cumulative exposure of the epidermis and underlying skin tissues to UV radiation may result in the development of abnormal cells within those tissues, leading to malignancies. Although darker-skinned individuals are at risk for skin cancer as well, they are less likely to develop it due to increased levels of melanin, specifically eumelanin, in their skin. Even though skin cancer is a serious health concern for some individuals, most skin cancers occur in the postreproductive years; therefore, it is improbable that evolutionary forces favoring varying melanin expression levels are related to a selective pressure to avoid such cancers. Furthermore, if avoiding skin cancer were the primary factor driving the evolution of various skin tones, then it reasons that everyone would have the most significant expression of eumelanin possible. So, why do we have different skin tones (Figure 14.12)?
The term cline (introduced in Chapter 13) refers to the continuum or spectrum of gradations (i.e., levels or degrees) from one extreme to another. With respect to skin tone, the various tonal shades occur clinally with darker skin being more prevalent near the equator and gradually decreasing in tone (i.e., decreased melanin production) in more distant latitudes. For individuals who are indigenous to equatorial regions, the increased levels of melanin within their skin provides them with a measure of protection against both sunburn and sunstroke because the melanin is more reflective of UV radiation than hemoglobin. In cases of severe sunburn, eccrine glands are affected, resulting in an individual’s ability to sweat being compromised. As sweat is the body’s most effective means of reducing its core temperature to maintain homeostasis, damage to the eccrine glands may lead to numerous physiological issues related to heat that may ultimately result in death.
Even though avoiding severe sunburn and sunstroke is of great importance to individuals within equatorial regions, this is likely not the primary factor driving the evolutionary selection of darker skin within these regions. It has been proposed that UV radiation’s destruction of folic acid, which is a form of B-complex vitamin, may have led to the selection of darker skin in equatorial regions. For pregnant people, low levels of folic acid within the body during gestation may lead to defects in the formation of the brain and spinal cord of the fetus. This condition, which is referred to as spina bifida (Figure 14.13), often significantly reduces an infant’s chances of survival without medical intervention. In people producing sperm, low levels of folic acid within the body reduce sperm quantity and quality. Thus, in geographic regions with high UV radiation levels (i.e., equatorial regions), there appears to be an evolutionarily driven correlation between darker skin and fertility.
If darker skin tone is potentially correlated to more successful reproduction, then why do lighter shades of skin exist? One hypothesis is that there is a relationship between lighter skin tone and vitamin D synthesis within the body. When skin is exposed to the UV-B radiation waves in sunlight, a series of chemical reactions occur within the epidermis leading to the production of vitamin D3, which is a fat-soluble vitamin that assists the body with absorbing calcium and phosphorus in the small intestine. These nutrients are among those that are critical for the proper growth and maintenance of bone tissue within the body. In the absence of adequate minerals, particularly calcium, bone structure and strength will be compromised, leading to the development of rickets during the growth phase. Rickets is a disease affecting children during their growth phase. It is characterized by inadequately calcified bones that are softer and more flexible than normal. Individuals with rickets will develop a true bowing of their legs, which may affect their mobility (Figure 14.14). In addition, deformation of pelvic bones in people who may become pregnant may occur as a result of rickets, leading to complications with reproduction. In adults, a deficiency in vitamin D3 will often result in osteomalacia, which is a general softening of the bones due to inadequate mineralization. As noted, a variety of maladies may occur due to the inadequate production or absorption of vitamin D3, as well as the destruction of folate within the human body. Therefore, from an evolutionary perspective, natural selection should favor a skin tone that is best suited to a given environment.
In general, the trend related to lighter skin pigmentation further from the equator follows a principle called Gloger’s Rule. This rule states that within the same species of mammals the more heavily pigmented individuals tend to originate near the equator while lighter-pigmented members of the species will be found in regions further from the equator. Gloger’s Rule applies latitudinally; however, it does not appear to hold for certain human populations near the poles. Specifically, it does not apply to the Inuit people (Figure 14.15), who are indigenous to regions near the North Pole and currently reside in portions of Canada, Greenland, Alaska, and Denmark. The Inuit have a darker skin tone that would not be anticipated under the provisions of Gloger’s Rule. The high reflectivity of light off of snow and ice, which is common in polar regions, necessitates the darker skin tone of these individuals to prevent folic acid degradation just as it does for individuals within equatorial regions. The consumption of vitamin D–rich foods, such as raw fish, permits the Inuit to reside at high latitudes with darker skin tone while preventing rickets.
Adaptation: Shape and Size Variations
In addition to natural selection playing a role in the determination of melanin expression, it plays a significant role in the determination of the shape and size of the human body. As previously discussed, the most significant thermodynamic mechanism of heat loss from the body is radiation. At temperatures below 20℃ (68℉), the human body loses around 65% of its heat to radiative processes; however, the efficiency of radiation is correlated to the overall body shape and size of the individual. There is a direct correlation between the ratio of an object’s surface area to mass and the amount of heat that may be lost through radiation. For example, two objects of identical composition and mass are heated to the same temperature. One object is a cube and the other is a sphere. Which object will cool the fastest? Geometrically, a sphere has the smallest surface area per unit mass of any three-dimensional object, so the sphere will cool more slowly than the cube. In other words, the smaller the ratio of the surface area to mass an object has, the more it will retain heat. With respect to the cube in our example, mass increases by the cube, but surface area may increase only by the square, so size will affect the mass to surface area ratio. This, in general, holds true for humans, as well.
In regions where temperatures are consistently cold, the body shape and size of individuals indigenous to the area tend to be more compact. These individuals have a relatively higher body mass to surface area (i.e., skin) than their counterparts from equatorial regions where the average temperatures are considerably warmer. Individuals from hot climates, such as the Fulani (Figure 14.16a) of West Africa, have limbs that are considerably longer than those of individuals from cold climates, such as the Inuit of Greenland (Figure 14.16b). Evolutionarily, the longer limbs of individuals from equatorial regions (e.g., the Fulani) provide a greater surface area (i.e., lower body mass to surface area ratio) for the dissipation of heat through radiative processes. In contrast, the relatively short limbs of Arctic-dwelling people, such as the Inuit, allows for the retention of heat because there is a decreased surface area through which heat may radiate away from the body.
As described above, there are certain trends related to the general shape and size of human bodies in relation to the thermal conditions. To better describe these trends, we turn to a couple of general principles that are applicable to a variety of species beyond humans. Bergmann’s Rule predicts that as average environmental temperature decreases, populations are expected to exhibit an increase in weight and a decrease in surface area (Figure 14.17a). Also, within the same species of homeothermic animals, the relative length of projecting body parts (e.g., nose, ears, and limbs) increases in relation to the average environmental temperature (Figure 14.17b). This principle, referred to as Allen’s Rule, notes that longer, thinner limbs are advantageous for the radiation of excess heat in hot environments and shorter, stockier limbs assist with the preservation of body heat in cold climates. A measure of the crural index (crural index = tibia length ÷ femur length) of individuals from various human populations provides support for Allen’s Rule since this value is lower in individuals from colder climates than it is for those from hot climates. The crural indices for human populations vary directly with temperature, so individuals with higher crural index values are generally from regions with a warmer average environmental temperature. Conversely, the crural indices are lower for individuals from regions where there are colder average temperatures.
Nasal shape and size (Figure 14.18) is another physiological feature affected by our ancestors’ environments. The selective role of climate in determining human nasal variation is typically approached by dividing climates into four adaptive zones: hot-dry, hot-wet, cold-dry, and cold-wet (Maddux et al. 2016). A principal role of the nasal cavity is to condition (i.e., warm and humidify) ambient air prior to its reaching the lungs. Given this function of the nasal cavity, it is anticipated that different nasal shapes and sizes will be related to varying environments. In cold-dry climates, an individual’s nasal cavity must provide humidification and warmth to the dry air when breathing in through the nose (Noback et al. 2011). Also, in that type of climate, the nasal cavity must conserve moisture and minimize heat loss during when the individual exhales through the nose (Noback et al. 2011). From a physiological stress perspective, this is a stressful event.
Conversely, in hot-wet environments, there is no need for the nasal cavity to provide additional moisture to the inhaled air nor is there a need to warm the air or to preserve heat within the nasal cavity (Noback et al. 2011). So, in hot-wet climates, the body is under less physiological stress related to the inhalation of ambient air than in cold-dry climates. As with most human morphological elements, the shape and size of the nasal cavity occurs along a cline. Due to the environmental stressors of cold-dry environments requiring the humidification and warming of air through the nasal cavity, individuals indigenous to such environments tend to have taller (longer) noses with a reduced nasal entrance (nostril opening) size (Noback et al. 2011). This general shape is referred to as leptorrhine, and it allows for a larger surface area within the nasal cavity itself for the air to be warmed and humidified prior to entering the lungs (Maddux et al. 2016). In addition, the relatively small nasal entrance of leptorrhine noses serves as a means of conserving moisture and heat (Noback et al. 2011). Individuals indigenous to hot-wet climates tend to have platyrrhine nasal shapes, which are shorter with broader nasal entrances (Maddux et al. 2016). Since individuals in hot-wet climates do not need to humidify and warm the air entering the nose, their nasal tract is shorter and the nasal entrance wider to permit the effective cooling of the nasal cavity during respiratory processes.
Adaptation: Infectious Disease
Throughout our evolutionary journey, humans have been exposed to numerous infectious diseases. In the following section, we will explore some of the evolutionary-based adaptations that have occurred in certain populations in response to the stressors presented by select infectious diseases. One of the primary examples of natural selection processes acting on the human genome in response to the presence of an infectious disease is the case of the relationship between the sickle-cell anemia trait and malaria, introduced in Chapter 4.
Malaria is a zoonotic disease (an infectious disease transmitted between animals and humans; it is covered in more detail in Chapter 16). It is caused by the spread of the parasitic protozoa from the genus Plasmodium (Figure 14.19). These unicellular, eukaryotic protozoa are transmitted through the bite of a female Anopheles mosquito. During the bite process, the protozoan parasites present within an infected mosquito’s saliva enter a host’s bloodstream where they are transported to the liver. Within the liver, the parasites multiply and are eventually released into the bloodstream, where they infect erythrocytes. Once inside the erythrocytes, the parasites reproduce until they exceed the cell’s storage capacity, causing it to burst and release the parasites into the bloodstream once again. This replication cycle continues as long as there are viable erythrocytes within the host to infect.
General complications from malaria infections include the following: enlargement of the spleen (due to destruction of infected erythrocytes); lower number of thrombocytes (also called platelets, required for coagulation/clotting of blood); high levels of bilirubin (a byproduct of hemoglobin breakdown in the liver) in the blood; jaundice (yellowing of the skin and eyes due to increased blood bilirubin levels); fever; vomiting; retinal (eye) damage; and convulsions (seizures). In 2020, there were 241 million cases of malaria reported globally, with 95% of those cases originating in Africa (World Health Organization 2021). In sub-Saharan Africa, where incidents of malaria are the highest in the world, 125 million pregnancies are affected by malaria, resulting in 200,000 infant deaths (Hartman, Rogerson, and Fischer 2013). Pregnant people who become infected during the gestational process are more likely to have low-birthweight infants due to prematurity or growth restriction inside the uterus (Hartman, Rogerson, and Fischer 2013). After birth, infants born to malaria-infected pregnant people are more likely to develop infantile anemia (low red-blood cell counts), a malaria infection that is not related to the maternal malarial infection, and they are more likely to die than infants born to non-malaria-infected pregnant people (Hartman, Rogerson, and Fischer 2013).
For children and adolescents whose brains are still developing, there is a risk of cognitive (intellectual) impairment associated with some forms of malaria infections (Fernando, Rodrigo, and Rajapakse 2010). Given the relatively high rates of morbidity (disease) and mortality (number of deaths) associated with malaria, it is plausible that this disease may have served as a selective pressure during human evolution. Support for natural selection related to malaria resistance is related to genetic mutations associated with sickle cell, thalassemia, glucose-6-phosphate dehydrogenase (G6PD) deficiency, and the absence of certain antigens (molecules capable of inducing an immune response from the host) on erythrocytes. For the purposes of this text, we will focus our discussion on the relationship between sickle cell disease and malaria.
Sickle cell disease is a group of genetically inherited blood disorders characterized by an abnormality in the shape of the hemoglobin within erythrocytes. It is important to note that there are multiple variants of hemoglobin, including, but not limited to the following: A, D, C, E, F, H, S, Barts, Portland, Hope, Pisa, and Hopkins. Each of these variants of hemoglobin may result in various conditions within the body; however, for the following explanation we will focus solely on variants A and S.
Individuals who inherit a mutated gene (hemoglobin with a sickled erythrocyte variety, HbS) on chromosome 11 from both parents will develop sickle cell anemia, which is the most severe form of the sickle cell disease family (Figure 14.20). The genotype of an individual with sickle cell anemia is HbSS; whereas, an individual without sickle cell alleles has a genotype of HbAA representing two normal adult hemoglobin type A variants. Manifestations of sickle cell anemia (HbSS) range from mild to severe, with some of the more common symptoms being anemia, blood clots, organ failure, chest pain, fever, and low blood-oxygen levels. In high-income countries with advanced medical care, the median life expectancy of an HbSS individual is around 60 years; however, in low-income countries where advanced medical care is scarce, as many as 90% of children with sickle cell disease perish before the age of five (Longo et al. 2017).
Considering that advanced medical care was not available during much of human evolutionary history, it stands to reason that the majority of individuals with the HbSS genotype died before the age of reproduction. If that is the case though, why do we still have the HbS variant present in modern populations? As covered earlier in this textbook, the genotype of an individual is composed of genes from both biological parents. In the case of an individual with an HbSS genotype, the sickle cell allele (HbS) was inherited from each of the parents. For individuals with the heterozygous genotype of HbSA, they have inherited both a sickle cell allele (HbS) and a normal hemoglobin allele (HbA). Heterozygous (HbSA) individuals who reside in regions where malaria is endemic may have a selective advantage. They will experience a sickling of some, but not all, of their erythrocytes. As discussed in the following paragraph, HbSA heterozygous individuals are less likely to die from malaria infections than their HbAA counterparts. Unlike an individual with the HbSS genotype, someone with HbSA may experience some of the symptoms listed above; however, they are generally less severe.
As noted earlier, the mechanism through which Plasmodium protozoan parasites replicate involves human erythrocyte cells. However, due to their sickled shape, as well as the presence of an abnormally shaped protein within the cell, the parasites are unable to replicate effectively in the erythrocyte cells coded for by the HbS allele (Cyrklaff et al. 2011). An individual who has an HbSA genotype and an active malaria infection will become ill with the disease to a lesser extent than someone with an HbAA genotype, which increases their chances of survival. Although normal erythrocytes (regulated by the HbA allele) allow for parasite replication, they are not able to replicate in HbS erythrocytes of the heterozygote. So, individuals with the HbSA genotype are more likely to survive a malaria infection than an individual who is HbAA. Although individuals with the HbSA genotype may endure some physiological complications related to the sickling of some of their erythrocytes, their morbidity and mortality rates are lower than they are for HbSS members of the population. The majority of individuals who are heterozygous or homozygous for the HbS trait have ancestors who originated in sub-Saharan Africa, India, Saudi Arabia, and regions in South and Central America, the Mediterranean (Turkey, Greece, and Italy), and the Caribbean (Centers for Disease Control and Prevention 2017; Figure 14.21).
With respect to the history of these regions, during the early phases of settlement horticulture was the primary method of crop cultivation. Typically performed on a small scale, horticulture is based on manual labor and relatively simple hand tools rather than the use of draft animals or irrigation technologies. Common in horticulture is swidden, or the cutting and burning of plants in woodland and grassland regions. The swidden is the prepared field that results following a slash-and-burn episode. This practice fundamentally alters the soil chemistry, removes plants that provide shade, and increases the areas where water may pool. This anthropogenically altered landscape provides the perfect breeding ground for the Anopheles mosquito, as it prefers warm, stagnant pools of water (Figure 14.22).
Although swidden agriculture was historically practiced across the globe, it became most problematic in the regions where the Anopheles mosquito is endemic. These areas have the highest incidence rates of malaria infection. Over time, the presence of the Anopheles mosquito and the Plasmodium parasite that it transmitted acted as a selective pressure, particularly in regions where swidden agricultural practices were common, toward the selection of individuals with some modicum of resistance against the infection. In these regions, HbSS and HbSA individuals would have been more likely to survive and reproduce successfully. Although individuals and populations are far more mobile now than they have been throughout much of history, there are still regions where we can see higher rates of malaria infection as well as greater numbers of individuals with the HbS erythrocyte variant. The relationship between malaria and the selective pressure for the HbS variant is one of the most prominent examples of natural selection in the human species within recent evolutionary history.
Adaptation: Lactase Persistence
With the case of sickled erythrocytes and their resistance to infection by malaria parasites, there is strong support for a cause-and-effect-style relationship linked to natural selection. Although somewhat less apparent, there is a correlation between lactase persistence and environmental challenges. Lactase-phlorizin hydrolase (LPH) is an enzyme that is primarily produced in the small intestine and permits the proper digestion of lactose, a disaccharide (composed of two simple sugars: glucose and galactose) found in the milk of mammals. Most humans will experience a decrease in the expression of LPH following weaning, leading to an inability to properly digest lactose. Generally, LPH production decreases between the ages of two and five and is completely absent by the age of nine (Dzialanski et al. 2016). For these individuals, the ingestion of lactose may lead to a wide variety of gastrointestinal ailments, including abdominal bloating, increased gas, and diarrhea. Although the bloating and gas are unpleasant, the diarrhea caused by a failure to properly digest lactose can be life-threatening if severe enough due to the dehydration it can cause. Some humans, however, are able to produce LPH far beyond the weaning period.
Individuals who continue to produce LPH have what is referred to as the lactase persistence trait. The lactase persistence trait is encoded for a gene called LCT, which is located on human chromosome 2 (Ranciaro et al. 2014; see also Chapter 3). From an evolutionary and historical perspective, this trait is most commonly linked to cultures that have practiced cattle domestication (Figure 14.23). For individuals in those cultures, the continued expression of LPH may have provided a selective advantage. During periods of environmental stress, such as a drought, if an individual is capable of successfully digesting cow’s milk, they have a higher chance of survival than someone who suffers from diarrhea-linked dehydration due to a lack of LPH. Although the frequency of the lactase persistence trait is relatively low among African agriculturalists, it is high among pastoralist populations that are traditionally associated with cattle domestication, such as the Tutsi and Fulani, who have frequencies of 90% and 50%, respectively (Tishkoff et al. 2007).
Cattle domestication began around 11,000 years ago in Europe (Beja-Pereira et al. 2006) and 7,500 to 9,000 years ago in the Middle East and North Africa (Tishkoff et al. 2007). Based on human genomic studies, it is estimated that the mutation for the lactase persistence trait occurred around 2,000 to 20,000 years ago for European populations (Tishkoff et al. 2007). For African populations, the lactase persistence trait emerged approximately 1,200 to 23,000 years ago (Gerbault et al. 2011). This begs the question: Is this mutation the same for both populations? It appears that the emergence of the lactase persistence mutation in non-European populations, specifically those in East Africa (e.g., Tutsi and Fulani), is a case of convergent evolution. With convergent evolution events, a similar mutation may occur in species of different lineages through independent evolutionary processes. Based on our current understanding of the genetic mutation pathways for the lactase persistence trait in European and African populations, these mutations are not representative of a shared lineage. In other words, just because a person of European origin and a person of African origin can each digest milk due to the presence of the lactase-persistence trait in their genotypes, it does not mean that these two individuals inherited it due to shared common ancestry.
Is it possible that the convergent evolution of similar lactase-persistence traits in disparate populations is merely a product of genetic drift? Or is there evidence for natural selection? Even though 23,000 years may seem like a long time, it is but a blink of the proverbial evolutionary eye. From the perspective of human evolutionary pathways, mutations related to the LCT gene have occurred relatively recently. Similar genetic changes in multiple populations through genetic drift processes, which are relatively slow and directionless, fail to accumulate as rapidly as lactase-persistence traits (Gerbault et al. 2011). The widespread accumulation of these traits in a relatively short period of time supports the notion that an underlying selective pressure must be driving this form of human evolution. Although to date no definitive factors have been firmly identified, it is thought that environmental pressures are likely to credit for the rapid accumulation of the lactase-persistence trait in multiple human populations through convergent evolutionary pathways.
Special Topic: Skin Tone Genetic Regulation
The melanocortin 1 receptor (MC1R) gene acts to control which types of melanin (eumelanin or pheomelanin) are produced by melanocytes. The MC1R receptor is located on the surface of the melanocyte cells (Quillen et al. 2018). Activation of the MC1R receptors may occur through exposure to specific environmental stimuli or due to underlying genetic processes. Inactive or blocked MC1R receptors result in melanocytes producing pheomelanin. If the MC1R gene receptors are activated, then the melanocytes will produce eumelanin. Thus, individuals with activated MC1R receptors tend to have darker-pigmented skin and hair than individuals with inactive or blocked receptors.
The alleles of another gene, the major facilitator, superfamily domain-containing protein 12 (MFSD12) gene, affect the expression of melanocytes in a different way than the MC1R gene. Instead of affecting the activation of melanocyte receptors, the MFSD12 alleles indirectly affect the membranes of melanocyte lysosomes (Quillen et al. 2018). The melanocyte’s lysosomes are organelles containing digestive enzymes, which ultimately correlate to varying degrees of pigmentation in humans. Variations in the membranes of the melanocyte lysosomes ultimately correlate to differing degrees of pigmentation in humans.
Ancestral MFSD12 allele variants are present in European and East Asian populations and are associated with lighter pigmentation of the skin (Crawford et al. 2017; Quillen et al. 2018). In addition, this ancestral variant is also associated with Tanzanian, San, and Ethiopian populations of Afro-Asiatic ancestry (Crawford et al. 2017; Quillen et al. 2018). In contrast, the more derived (i.e., more recent) allele variants that are linked to darker skin tones are more commonly present in East African populations, particularly those of Nilo-Saharan descent (Crawford et al. 2017; Quillen et al. 2018). The notion that ancestral alleles of MFSD12 are associated with lighter skin pigmentation is in opposition to the commonly accepted idea that our pigmentation was likely darker throughout early human evolution (Crawford et al. 2017; Quillen et al. 2018). Due to the complexity of the human genome, MFSD12 and MC1R are but two examples of alleles affecting human skin tone. Furthermore, there is genetic evidence suggesting that certain genomic variants associated with both darker and lighter skin color have been subject to directional selection processes for as long as 600,000 years, which far exceeds the evolutionary span of Homo sapiens sapiens (Crawford et al. 2017; Quillen et al. 2018).
Human Variation: Our Story Continues
From the time that the first of our species left Africa, we have had to adjust and adapt to numerous environmental challenges. The remarkable ability of human beings to maintain homeostasis through a combination of both nongenetic (adjustments) and genetic (adaptations) means has allowed us to occupy a remarkable variety of environments, from high-altitude mountainous regions to the tropics near the equator. From adding piquant, pungent spices to our foods as a means of inhibiting food-borne illnesses due to bacterial growth to donning garments specially suited to local climates, behavioral adjustments have provided us with a nongenetic means of coping with obstacles to our health and well-being. Acclimatory adjustments, such as sweating when we are warm in an attempt to regulate our body temperature or experiencing increased breathing rates as a means of increasing blood oxygen levels in regions where the partial pressure of oxygen is low, have been instrumental in our survival with respect to thermal and altitudinal environmental challenges. For some individuals, developmental adjustments that were acquired during their development and growth phases (e.g., increased heart and lung capacities for individuals from high-altitude regions) provide them with a form of physiological advantage not possible for someone who ventures to such an environmentally challenging region as an adult. Genetically mediated adaptations, such as variations in the pigmentation of our skin, have ensured our evolutionary fitness across all latitudes.
Will the human species continue to adjust and adapt to new environmental challenges in the future? If past performance is any measure of future expectations, then the human story will continue as long as we do not alter our environment to the point that the plasticity of our behavior, physiological, and morphological boundaries is exceeded. In the following chapters, you will explore additional information about our saga as a species. From the concept of race as a sociocultural construct to our epidemiological history, the nuances of evolutionary-based human variation are always present and provide the basis for understanding our history and our future as a species.