Population genetic implications from sequence variation in four Y chromosome genes.
Population genetic implications from sequence variation in four Y chromosome genes.
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DOI：
10.1073/pnas.97.13.7354
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发表时间：
2000-06
影响因子：
11.1
通讯作者：
P. Shen;Frank Wang;P. Underhill;Cláudia Franco;Wei-Hsien Yang;Adriane Roxas;Raphael K. Sung;A. A. Lin-A.;R. Hyman;D. Vollrath;Ronald W. Davis;L. Cavalli-Sforza;P. Oefner
中科院分区：
文献类型：
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作者：
P. Shen;Frank Wang;P. Underhill;Cláudia Franco;Wei-Hsien Yang;Adriane Roxas;Raphael K. Sung;A. A. Lin-A.;R. Hyman;D. Vollrath;Ronald W. Davis;L. Cavalli-Sforza;P. Oefner
从对四个Y染色体基因的测序中，人们对人类进化有了一些了解。初步基因组测序确定SMCY基因由27个外显子组成，包含4,620 bp的编码序列。通过引物行走完成了UTY1基因5'部分的未完成测序，共发现20个外显子。利用变性高效液相色谱法，对这两个基因以及DBY和DFFRY基因在五大洲53 ~ 72个代表性基因中进行了多态性位点筛选。总共发现了98个变异，产生的核苷酸多样性估计为2.45 x 10(-5), 5。SMCY、DFFRY和UTY1的编码区分别为07 × 10（-5）和8.54 × 10(-5)，在DBY中未观察到变异。与大多数常染色体基因一致，非编码区域的多样性估计大约高出2至3倍，范围从9。4个基因为16 × 10（-5）至14.2 × 10（-5）。对所有四个基因的衍生等位基因频率的分析表明，它们更接近luria - delbr<e:1> ck分布的预期，而不是恒定种群大小模型下的预期分布，为指数种群增长提供了证据。成对核苷酸错配分布可以追溯到大约28000年前的人口扩张。这一估计与奥里尼亚纪技术的传播和尼安德特人的消失是一致的。
Some insight into human evolution has been gained from the sequencing of four Y chromosome genes. Primary genomic sequencing determined gene SMCY to be composed of 27 exons that comprise 4,620 bp of coding sequence. The unfinished sequencing of the 5' portion of gene UTY1 was completed by primer walking, and a total of 20 exons were found. By using denaturing HPLC, these two genes, as well as DBY and DFFRY, were screened for polymorphic sites in 53-72 representatives of the five continents. A total of 98 variants were found, yielding nucleotide diversity estimates of 2.45 x 10(-5), 5. 07 x 10(-5), and 8.54 x 10(-5) for the coding regions of SMCY, DFFRY, and UTY1, respectively, with no variant having been observed in DBY. In agreement with most autosomal genes, diversity estimates for the noncoding regions were about 2- to 3-fold higher and ranged from 9. 16 x 10(-5) to 14.2 x 10(-5) for the four genes. Analysis of the frequencies of derived alleles for all four genes showed that they more closely fit the expectation of a Luria-Delbrück distribution than a distribution expected under a constant population size model, providing evidence for exponential population growth. Pairwise nucleotide mismatch distributions date the occurrence of population expansion to approximately 28,000 years ago. This estimate is in accord with the spread of Aurignacian technology and the disappearance of the Neanderthals.