Molecular phylogeography of a human autosomal skin color locus under natural selection.
Molecular phylogeography of a human autosomal skin color locus under natural selection.
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DOI：
10.1534/g3.113.007484
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发表时间：
2013-11-06
期刊：
影响因子：
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通讯作者：
Cheng KC
中科院分区：
文献类型：
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作者：
Canfield VA;Berg A;Peckins S;Wentzel SM;Ang KC;Oppenheimer S;Cheng KC
不同的自然选择所造成的差异，在阳光照射，导致不同的肤色之间的人类种群。SLC24A5基因的浅色等位基因A111T在欧亚西部血统的人群中占主导地位。为了深入了解这种突变发生的时间和地点，我们在不同人群中定义了SLC24A5周围基因组区域的常见单倍型，并推导出它们之间的系统发育关系。几乎所有携带A111 T等位基因的染色体都有一个78 kb的单倍型，我们称之为C11，这表明人类群体中所有这种突变的实例都有一个共同的起源。C11单倍型最有可能是由两种单倍型之间的交叉产生的，其次是A111 T突变。这两个亲本前体单倍型在东亚到美洲都有发现，但在非洲几乎不存在。C11及其亲本单倍型的分布使得这最后两个步骤最有可能发生在中东和印度次大陆之间，而A111 T突变发生在欧洲人和东亚人的祖先分裂之后。
Divergent natural selection caused by differences in solar exposure has resulted in distinctive variations in skin color between human populations. The derived light skin color allele of the SLC24A5 gene, A111T, predominates in populations of Western Eurasian ancestry. To gain insight into when and where this mutation arose, we defined common haplotypes in the genomic region around SLC24A5 across diverse human populations and deduced phylogenetic relationships between them. Virtually all chromosomes carrying the A111T allele share a single 78-kb haplotype that we call C11, indicating that all instances of this mutation in human populations share a common origin. The C11 haplotype was most likely created by a crossover between two haplotypes, followed by the A111T mutation. The two parental precursor haplotypes are found from East Asia to the Americas but are nearly absent in Africa. The distributions of C11 and its parental haplotypes make it most likely that these two last steps occurred between the Middle East and the Indian subcontinent, with the A111T mutation occurring after the split between the ancestors of Europeans and East Asians.