Evidence for positive selection and population structure at the human MAO-A gene
Evidence for positive selection and population structure at the human MAO-A gene
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DOI：
10.1073/pnas.022614799
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发表时间：
2002-01-22
影响因子：
11.1
通讯作者：
Skorecki, K
中科院分区：
文献类型：
--
作者：
Gilad, Y;Rosenberg, S;Skorecki, K
我们报告的分析人类核苷酸多样性的遗传位点已知参与的行为表型，单胺氧化酶A基因。对来自7个不同人种地理群体的56名男性个体进行了单胺氧化酶A基因5个区域共18.8 kb和90 kb的测序。我们发现了41个分离位点，形成了46个不同的单倍型。排列测试检测到大量的人口结构，在这些样本。与种群之间的分化一致，连锁不平衡高于panmixia下的预期，没有证据表明随着距离的衰减。连锁不平衡的程度是不典型的核基因座，并建议潜在的人口结构可能已被加重的选择性扫描，固定不同的单倍型在不同的人群，或当地的适应。为了支持这一建议，我们发现多样性水平的降低（通过使用DMD 44位点的Hudson-Kreitman-Aguade测试测量）和高频衍生变体的过量，正如最近一次正选择后所预期的那样。
We report the analysis of human nucleotide diversity at a genetic locus known to be involved in a behavioral phenotype, the monoamine oxidase A gene. Sequencing of five regions totaling 18.8 kb and spanning 90 kb of the monoamine oxidase A gene was carried out in 56 male individuals from seven different ethnogeographic groups. We uncovered 41 segregating sites, which formed 46 distinct haplotypes. A permutation test detected substantial population structure in these samples. Consistent with differentiation between populations, linkage disequilibrium is higher than expected under panmixia, with no evidence of a decay with distance. The extent of linkage disequilibrium is not typical of nuclear loci and suggests that the underlying population structure may have been accentuated by a selective sweep that fixed different haplotypes in different populations, or by local adaptation. In support of this suggestion, we find both a reduction in levels of diversity (as measured by a Hudson-Kreitman-Aguade test with the DMD44 locus) and an excess of high frequency-derived variants, as expected after a recent episode of positive selection.