Epistatic and combinatorial effects of pigmentary gene mutations in the domestic pigeon.
Epistatic and combinatorial effects of pigmentary gene mutations in the domestic pigeon.
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DOI：
10.1016/j.cub.2014.01.020
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发表时间：
2014-02-17
期刊：
影响因子：
9.2
通讯作者：
Shapiro, Michael D.
中科院分区：
文献类型：
--
作者：
Domyan, Eric T.;Guernsey, Michael W.;Kronenberg, Zev;Krishnan, Shreyas;Boissy, Raymond E.;Vickrey, Anna I.;Rodgers, Clifford;Cassidy, Pamela;Leachman, Sancy A.;Fondon, John W., III;Yandell, Mark;Shapiro, Michael D.
了解表型多样性的分子基础是生物学中的一个关键挑战，但我们对不同突变的机械效应和基因座之间的上位关系知之甚少，这些基因座有助于复杂的性状。色素沉着遗传学提供了一个强大的模型，用于识别潜在的多样性突变，并确定如何从基因座之间的相互作用出现额外的复杂性。几个世纪以来，通过几十个基因位点的综合作用，家鸽的人工选择已经培养出了羽毛色素的巨大变异。通过经典的遗传学研究，这种多样性的关键基因座的显性和上位层次是已知的，但他们的分子身份和遗传相互作用的机制仍然未知。在这里，我们确定的蛋白质编码和顺式调控突变Tyrp1，Sox10，和Slc45a2的基础上经典的颜色表型的鸽子，并提出了一个机械的解释，其优势和上位关系。我们还在Tyrp1和Sox10发现了意想不到的等位基因异质性，表明颜色变体通过相同基因的突变重复进化。这些结果表明，在经典的达尔文进化模型中，少数基因中的编码和调控突变谱如何相互作用，产生大量的表型多样性。
Understanding the molecular basis of phenotypic diversity is a critical challenge in biology, yet we know little about the mechanistic effects of different mutations and epistatic relationships among loci that contribute to complex traits. Pigmentation genetics offers a powerful model for identifying mutations underlying diversity, and for determining how additional complexity emerges from interactions among loci. Centuries of artificial selection in domestic rock pigeons have cultivated tremendous variation in plumage pigmentation through the combined effects of dozens of loci. The dominance and epistatic hierarchies of key loci governing this diversity are known through classical genetic studies, but their molecular identities and the mechanisms of their genetic interactions remain unknown. Here we identify protein-coding and cis-regulatory mutations in Tyrp1, Sox10, and Slc45a2 that underlie classical color phenotypes of pigeons, and present a mechanistic explanation of their dominance and epistatic relationships. We also find unanticipated allelic heterogeneity at Tyrp1 and Sox10, indicating that color variants evolved repeatedly though mutations in the same genes. These results demonstrate how a spectrum of coding and regulatory mutations in a small number of genes can interact to generate substantial phenotypic diversity in a classic Darwinian model of evolution.
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