Recent common ancestry of human Y chromosomes: Evidence from DNA sequence data
Recent common ancestry of human Y chromosomes: Evidence from DNA sequence data
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DOI：
10.1073/pnas.97.13.7360
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发表时间：
2000-06-20
影响因子：
11.1
通讯作者：
Feldman, MW
中科院分区：
文献类型：
--
作者：
Thomson, R;Pritchard, JK;Feldman, MW
我们考虑了世界范围内的人类Y染色体样本中三个Y染色体基因(SMCY、DBY和DFFRY)的DNA序列变异数据集。利用变性高效液相色谱方法对53~70条染色体的每个座位上的序列变异进行了全面筛选。这三个基因的长度之和为64,120个碱基。我们利用这些数据研究了人类Y染色体的祖先谱系。特别是，我们专注于估计到最近的共同祖先的预期时间，以及具有有趣地理分布的某些突变的预期年龄。尽管推断出的单倍型树的地理结构让人想起了其他基因座的地理结构(根在非洲，大多数最古老的非非洲血统都是亚洲人)，但预计到最近的共同祖先的时间非常短，大约为5万年。因此，尽管以前的研究已经注意到Y染色体的变异表现出极端的地理结构，但我们估计Y染色体在非洲以外的传播比之前认为的要晚得多。我们还表明，我们的数据显示，人类Y染色体的有效数量在人口中大幅增长。
We consider a data set of DNA sequence variation at three Y chromosome genes (SMCY, DBY, and DFFRY) in a worldwide sample of human Y chromosomes. Between 53 and 70 chromosomes were fully screened for sequence variation at each locus by using the method of denaturing high-performance liquid chromatography. The sum of the lengths of the three genes is 64,120 bp. We have used these data to study the ancestral genealogy of human Y chromosomes. In particular, we focused on estimating the expected time to the most recent common ancestor and the expected ages of certain mutations with interesting geographic distributions. Although the geographic structure of the inferred haplotype tree is reminiscent of that obtained for other loci (the root is in Africa, and most of the oldest non-African lineages are Asian), the expected time to the most recent common ancestor is remarkably short, on the order of 50,000 years. Thus, although previous studies have noted that Y chromosome variation shows extreme geographic structure, we estimate that the spread of Y chromosomes out of Africa is much more recent than previously was thought. We also show that our data indicate substantial population growth in the effective number of human Y chromosomes.