Scan of human genome reveals no new loci under ancient balancing selection
Scan of human genome reveals no new loci under ancient balancing selection
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DOI：
10.1534/genetics.106.055715
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发表时间：
2006-08-01
期刊：
影响因子：
3.3
通讯作者：
Olson, M. V.
中科院分区：
文献类型：
--
作者：
Bubb, K. L.;Bovee, D.;Olson, M. V.
关于平衡选择在进化中扮演了什么角色，人们有很多猜测。为了识别人类群体中保持了数百万年多态的区域，例如人类白细胞抗原，我们扫描了人类基因组中具有高SNP密度的区域。我们发现了除HLA和ABO之外的16个区域，这些区域是迄今描述的最高度多态的区域；然而，明显缺乏在这些位置平衡选择的证据-事实上，全基因组模拟表明，我们的发现预计在中立的情况下。我们提出：(I)由于它很少是稳定的，长期的平衡选择是进化上的一种奇特现象，(Ii)当平衡多态起源古老时，仅通过SNP数据进行检测的要求很少得到满足。
There has been much speculation as to what role balancing selection has played in evolution. In an attempt to identify regions, such as HLA, at which polymorphism has been maintained in the human population for millions of years, we scanned the human genome for regions of high SNP density. We found 16 regions that, outside of HLA and ABO, are the most highly polymorphic regions yet described; however, evidence for balancing selection at these sites is notably lacking-indeed, whole-genome simulations indicate that our findings are expected under neutrality. We propose that (i) because it is rarely stable, long-term balancing selection is an evolutionary oddity, and (ii) when a balanced polymorphism is ancient in origin, the requirements for detection by means of SNP data alone will rarely be met.