Environmental selection during the last ice age on the mother-to-infant transmission of vitamin D and fatty acids through breast milk.
Environmental selection during the last ice age on the mother-to-infant transmission of vitamin D and fatty acids through breast milk.
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DOI：
10.1073/pnas.1711788115
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发表时间：
2018-05-08
影响因子：
11.1
通讯作者：
Scott GR
中科院分区：
文献类型：
--
作者：
Hlusko LJ;Carlson JP;Chaplin G;Elias SA;Hoffecker JF;Huffman M;Jablonski NG;Monson TA;O'Rourke DH;Pilloud MA;Scott GR
人特异性EDAR V370A亚型的频率在北亚和东亚人群中高度升高。已知该基因具有多种多效性效应，其中包括乳腺中的汗腺密度和导管分支。前者导致一些遗传学家认为，该等位基因的接近固定是由调节体温出汗的选择引起的。我们提供了另一种假设，即选择作用于等位基因增加乳腺导管分支的作用，从而放大了通过母乳向婴儿转移关键营养物质。这很可能发生在末次盛冰期，当时人类在白令吉亚的高纬度环境中被遗传隔离。由于我们物质文化的普遍适应性，一些人类群体已经占据了极端的环境，加强了对现有基因组变异的选择。到32，000年前，人们生活在北极的白令海，在末次盛冰期（LGM; 28，000 - 18，000年前），他们可能坚持在白令海避难所。这样的高纬度地区只提供非常低水平的紫外线辐射，因此可能导致生物合成维生素D的危险水平低。维生素D缺乏的生理影响范围从减少膳食钙吸收到免疫系统受损和脂肪组织功能改变。外胚层发育不良A受体（EDAR）基因具有一系列多效性效应，包括汗腺密度、切牙铲动和乳腺导管分支。人类特异性EDAR V370A等位基因的频率似乎在北亚、东亚和新世界人群中独特地升高，这是由于大约20，000年前可能发生的一轮正选择。该等位基因的牙齿多效性效应表明，在欧洲殖民之前，西半球的土著人中发生率更高。我们假设，选择EDAR V370A发生在白令岛避难所，因为它增加乳腺导管分支，从而可能会放大维生素D缺乏条件下的关键营养物质通过母乳转移到婴儿。EDAR V370A的这种假设的选择性背景可能与脂肪酸去饱和酶（FADS）基因簇的选择交织在一起，因为已知它可以调节从富含ω-3脂肪酸的富含维生素D的饮食中传递到牛奶中的脂质谱。
The frequency of the human-specific EDAR V370A isoform is highly elevated in North and East Asian populations. The gene is known to have several pleiotropic effects, among which are sweat gland density and ductal branching in the mammary gland. The former has led some geneticists to argue that the near-fixation of this allele was caused by selection for modulation of thermoregulatory sweating. We provide an alternative hypothesis, that selection instead acted on the allele’s effect of increasing ductal branching in the mammary gland, thereby amplifying the transfer of critical nutrients to infants via mother’s milk. This is likely to have occurred during the Last Glacial Maximum when a human population was genetically isolated in the high-latitude environment of the Beringia. 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.
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影响因子：
4
作者：
Ching, Stephen;Kashinkunti, Soumya;Niehaus, Matthew D.;Zinser, Glendon M.
通讯作者：
Zinser, Glendon M.
通过适应本地来进行全球：对最近的人类适应的评论。
DOI：
10.1126/science.aaf5098
发表时间：
2016-10-07
期刊：
Science (New York, N.Y.)
影响因子：
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作者：
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通讯作者：
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影响因子：
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作者：
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通讯作者：
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DOI：
10.1074/jbc.m112.411033
发表时间：
2013-01-25
期刊：
The Journal of biological chemistry
影响因子：
--
作者：
Basham KJ;Kieffer C;Shelton DN;Leonard CJ;Bhonde VR;Vankayalapati H;Milash B;Bearss DJ;Looper RE;Welm BE
通讯作者：
Welm BE
DOI：
10.1073/pnas.1620541114
发表时间：
2017-02-28
影响因子：
11.1
作者：
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通讯作者：
Hunemeier, Tabita