Document Type

Article

Publication Date

5-8-2018

Keywords

mammary epithelium, dental anthropology, Beringia, adaptation, UV radiation

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.

Publication Title

Proceedings of the National Academy of Sciences of the United States of America

Volume

115

Issue

19

First Page

E4426

Last Page

E4432

DOI

10.1073/pnas.1711788115

Required Publisher's Statement

Copyright © 2018 the Author(s). Published by PNAS.

Comments

This article contains supporting information online at www.pnas.org/lookup/suppl/doi:10.1073/pnas.1711788115/-/DCSupplemental.

Subjects - Topical (LCSH)

Mammary glands; Dental anthropology; Ultraviolet radiation; Vitamin D

Geographic Coverage

Bering Land Bridge

Genre/Form

articles

Type

Text

Rights

Copying of this document in whole or in part is allowable only for scholarly purposes. It is understood, however, that any copying or publication of this document for commercial purposes, or for financial gain, shall not be allowed without the author’s written permission.

Language

English

Format

application/pdf

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