The geographic distribution of human Y chromosome variation.
The geographic distribution of human Y chromosome variation.
复制标题
人类 Y 染色体变异的地理分布。
DOI：
10.1093/genetics/145.3.787
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发表时间：
1997
期刊：
影响因子：
3.3
通讯作者：
Zegura,SL
中科院分区：
文献类型：
--
作者：
Hammer,MF;Spurdle,AB;Karafet,T;Bonner,MR;Wood,ET;Novelletto,A;Malaspina,P;Mitchell,RJ;Horai,S;Jenkins,T;Zegura,SL
我们检测了人类Y染色体非重组部分的变异，以研究过去20万年来人类的进化。Y染色体特异性多态位点包括YAlu插入多态性或“雅普”元件（DYS 287）、与雅普元件相关的poly（A）尾、与雅普插入位点密切相关的3个点突变、A-G多态性转换（DYS 271）和四核苷酸微卫星（DYS 19）。在来自非洲、欧洲、亚洲、澳大拉西亚和新大陆的60个人群中，5个双等位基因位点（DYS 271、DYS 287和3个点突变）的全球变异产生了5个“雅普单倍型”（n= 1500）。将微卫星位点（poly（A）尾和DYS 19）的多等位变异与雅普单倍型结合，得到27个“组合单倍型”。所有5个雅普单倍型和27个组合单倍型中的21个在非洲人群中发现，非洲人群比其他地理位置的人群具有更大的单倍型多样性。在非洲以外的地区只发现了五种雅普单倍型的子集。观察到的变化模式与各种假设相一致，包括多次人类迁移和范围扩张。
We examined variation on the nonrecombining portion of the humanYchromosome to investigate human evolution during the last 200,000 years. TheY-specific polymorphic sites included theYAlu insertional polymorphism or “YAP” element (DYS287), the poly(A) tail associated with the YAP element, three point mutations in close association with the YAP insertion site, an A-G polymorphic transition (DYS271), and a tetranucleotide microsatellite (DYS19). Global variation at the five bi-allelic sites (DYS271, DYS287, and the three point mutations) gave rise to five “YAP haplotypes” in 60 populations from Africa, Europe, Asia, Australasia, and the New World (n= 1500). Combining the multi-allelic variation at the microsatellite loci (poly(A) tail andDYS19) with the YAP haplotypes resulted in a total of 27 “combination haplotypes”. All five of the YAP haplotypes and 21 of the 27 combination haplotypes were found in African populations, which had greater haplotype diversity than did populations from other geographical locations. Only subsets of the five YAP haplotypes were found outside of Africa. Patterns of observed variation were compatible with a variety of hypotheses, including multiple human migrations and range expansions.