Gene linked to breastfeeding may have boosted survival of earliest Americans

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When the ancestors of Native Americans ventured across the Bering land bridge from today’s Siberia to Alaska about 20,000 years ago, they struggled to get enough sunlight during the long, dark winters. Living so far north with scant sunshine should have led to rickets and other health problems, yet somehow the population survived and even thrived enough to live there for thousands of years. Their lucky break, according to a new study, was that they carried a genetic mutation—revealed in ancient teeth—that boosted the development of milk ducts in women’s breasts, which may have helped nursing mothers pass more nutrients to their infants.

“Teeth telling us something about fertility? That’s really amazing,” says biological anthropologist Julienne Rutherford of the University of Illinois in Chicago, who was not involved with the work.

The gene in question is known as EDAR. Native Americans and Asians carry a version of the gene that is linked to thicker hair shafts, more sweat glands, and shovel-shaped incisors. A variant of this gene—V370A—arose about 30,000 years ago or so in China when the climate was hotter and more humid, which prompted researchers to speculate initially that it was advantageous to have more sweat glands in that environment. But the gene variant swept through the ancestors of Asians and Native Americans about 20,000 years ago, when the climate where they lived in Asia and Beringia (the now-submerged land between Asia and Alaska) was colder and dryer. So the actual cause of the gene’s spread has been unknown.

The new study reveals that the variant was so beneficial it spread to everyone in the Americas. When researchers led by biological anthropologist Leslea Hlusko of the University of California, Berkeley, examined data on the teeth of more than 5000 people from 54 archaeological sites in Europe, Asia, and North and South America, they found shoveled teeth—and hence, the gene variant that causes them—in about 40% of the individuals in Asia and all of the 3183 fossils of Native Americans they examined (who all lived before European colonization).

This suggests that some members of the first group to arrive in Beringia probably carried the gene, which arose in Asia. Then it quickly swept through the rest of the small isolated population of people who settled there between 28,000 and 18,000 years ago.

Living at such a high latitude puts nursing infants at risk of not getting enough sunlight in winter to synthesize vitamin D in their skin. Unlike adults, nursing infants can’t eat marine foods and organ meat rich in vitamin D to compensate. Vitamin D deficiency can trigger serious problems with bone development, such as rickets. It also interferes with the many ways fat insulates and fuels our bodies, as well as how the immune system wards off disease.

The EDAR variant led to the development of more elaborate branching of milk ducts in studies of mice. Hlusko and her colleagues hypothesize that those extra branches cause mothers to produce more milk or deliver more nutrients in their milk. If so, children of mothers with the EDAR variant would have been more likely to survive, thus spreading the variant throughout the population, the team proposes today in the Proceedings of the National Academy of Sciences.

The study shows how natural selection can work rapidly when humans move into extreme environments, such as the Arctic, exerting strong selection on genes critical for development and metabolism, says biological anthropologist William Leonard of Northwestern University in Evanston, Illinois, who was not involved with this work.

Follow-up studies need to be done to explore just how an increase in breast ducts might deliver more nutrients. One possibility, Hlusko says, is that the EDAR gene variant works with fatty acid genes to deliver more fats in breast milk. Researchers need to see whether there is a connection between the genes, says geneticist Tábita Hünemeier of the University of São Paulo in Brazil, who found selection for fatty acid genes in Native Americans and is not involved with the work.

Hlukso is now collaborating with others to explore how the EDAR gene variant affects breast development and density. “This is not just a Native American story,” Hlusko says. “Everyone with shovel-shaped incisors has this gene that may compensate for vitamin D deficiency.”

http://www.sciencemag.org/news/2018...-may-have-boosted-survival-earliest-americans

Environmental selection during the last ice age on the mother-to-infant transmission of vitamin D and fatty acids through breast milk

Abstract

Because of the ubiquitous adaptability of our material culture, some human populations have occupied extreme environments that intensified selection on existing genomic variation. By 32,000 years ago, people were living in Arctic Beringia, and during the Last Glacial Maximum (LGM; 28,000–18,000 y ago), they likely persisted in the Beringian refugium. Such high latitudes provide only very low levels of UV radiation, and can thereby lead to dangerously low levels of biosynthesized vitamin D. The physiological effects of vitamin D deficiency range from reduced dietary absorption of calcium to a compromised immune system and modified adipose tissue function. The ectodysplasin A receptor (EDAR) gene has a range of pleiotropic effects, including sweat gland density, incisor shoveling, and mammary gland ductal branching. The frequency of the human-specific EDAR V370A allele appears to be uniquely elevated in North and East Asian and New World populations due to a bout of positive selection likely to have occurred circa 20,000 y ago. The dental pleiotropic effects of this allele suggest an even higher occurrence among indigenous people in the Western Hemisphere before European colonization. We hypothesize that selection on EDAR V370A occurred in the Beringian refugium because it increases mammary ductal branching, and thereby may amplify the transfer of critical nutrients in vitamin D-deficient conditions to infants via mothers’ milk. This hypothesized selective context for EDAR V370A was likely intertwined with selection on the fatty acid desaturase (FADS) gene cluster because it is known to modulate lipid profiles transmitted to milk from a vitamin D-rich diet high in omega-3 fatty acids.

http://www.pnas.org/content/early/2018/04/18/1711788115




 
It is incredible how important is to have right level of vitamin D3. It takes part in so many systems in our body. It is incredibly essencial!
 

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