Shades of complexity: New perspectives on the evolution and genetic architecture of human skin
Shades of complexity: New perspectives on the evolution and genetic architecture of human skin
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DOI：
10.1002/ajpa.23737
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发表时间：
2019-01-01
影响因子：
2.8
通讯作者：
Jablonski, Nina G.
中科院分区：
文献类型：
--
作者：
Quillen, Ellen E.;Norton, Heather L.;Jablonski, Nina G.
像许多高度可变的人类特征一样，已知有十几个基因对皮肤颜色的全部范围起作用。然而，在欧洲和欧洲衍生人群中进行遗传研究的历史偏见使我们对色素沉着的复杂性视而不见。随着科学家们为更好地描述全球不同人群的特征而做出的不懈努力，以及新的测序技术、更好的测量工具、功能评估、预测建模和古代DNA分析变得越来越容易获得，我们开始意识到，我们对人类肤色遗传基础的理解是多么有限。新的基因变异以前没有与色素沉着有关，有越来越多的证据表明，还有数百个变异尚未被发现。即使是在欧洲人群中已经被详尽描述的基因，如MC1R，OCA2和SLC 24A5，对以前研究不足的群体的研究正在导致对遗传多样性，上位相互作用，多效性，混合，全球和地方适应以及文化习俗以特定人群的方式运作，以塑造肤色的遗传结构。此外，我们正在研究晒黑反应和屏障功能等因素如何影响人类历史上对皮肤的选择。通过研究我们对色素遗传学的知识在过去十年中的变化，我们可以更好地了解我们在理解人类多样性方面已经走了多远，以及在理解许多复杂的人类特征方面还有很长的路要走。
Like many highly variable human traits, more than a dozen genes are known to contribute to the full range of skin color. However, the historical bias in favor of genetic studies in European and European-derived populations has blinded us to the magnitude of pigmentation's complexity. As deliberate efforts are being made to better characterize diverse global populations and new sequencing technologies, better measurement tools, functional assessments, predictive modeling, and ancient DNA analyses become more widely accessible, we are beginning to appreciate how limited our understanding of the genetic bases of human skin color have been. Novel variants in genes not previously linked to pigmentation have been identified and evidence is mounting that there are hundreds more variants yet to be found. Even for genes that have been exhaustively characterized in European populations like MC1R, OCA2, and SLC24A5, research in previously understudied groups is leading to a new appreciation of the degree to which genetic diversity, epistatic interactions, pleiotropy, admixture, global and local adaptation, and cultural practices operate in population-specific ways to shape the genetic architecture of skin color. Furthermore, we are coming to terms with how factors like tanning response and barrier function may also have influenced selection on skin throughout human history. By examining how our knowledge of pigmentation genetics has shifted in the last decade, we can better appreciate how far we have come in understanding human diversity and the still long road ahead for understanding many complex human traits.