Independent histories of human y chromosomes from melanesia and Australia
Independent histories of human y chromosomes from melanesia and Australia
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DOI：
10.1086/316949
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发表时间：
2001-01-01
影响因子：
9.8
通讯作者：
Stoneking, M
中科院分区：
文献类型：
--
作者：
Kayser, M;Brauer, S;Stoneking, M
为了调查澳大利亚和美拉尼西亚人口的起源和关系，来自澳大利亚，美拉尼西亚和东亚/东南亚的18个人口的611名男性进行了分型的8个单核苷酸多态性（SNP）位点和7个短串联重复基因座的Y染色体。在澳大利亚人群中发现了一种独特的单倍型DYS330.1del/RPS 4 Y 711 T，频率为53%-69%，而在美拉尼西亚人群中发现的主要单倍型（M4 G/M5 T/M9 G和DYS390.3del/RPS 4 Y 711 T）在澳大利亚人群中不存在。因此，Y染色体数据表明澳大利亚人和美拉尼西亚人有着独立的历史，这一发现与线粒体DNA的证据相一致，但与一些常染色体基因座分析相矛盾，后者显示澳大利亚人和美拉尼西亚人（特别是高地巴布亚新几内亚人）之间有着密切的关系。由于澳大利亚和新几内亚大陆在大于或等于5万年前首次被人类殖民时是相连的，但在大约8,000年前分开，因此协调所有遗传数据的一种可能方法是推断Y染色体和mtDNA结果反映了澳大利亚和新几内亚过去8,000年的独立历史。而常染色体基因座则反映了共同起源和共同历史的漫长时期。起源于东亚/东南亚的两种Y染色体单倍型（M119 C/M9 G和M122 C/M9 G）存在于沿海和岛屿的美拉尼西亚，但在澳大利亚和高地巴布亚新几内亚都很罕见或不存在。这种分布，沿着人口统计学分析表明，这两种单倍型的人口扩张始于4000 - 6000年前，这表明这些单倍型是由南岛语族的扩张带到美拉尼西亚的。本研究中的大多数人群先前都进行了mtDNA SNP分型; Y染色体的人群分化大于mtDNA，并且与地理距离显著相关，这一发现与欧洲人群的类似分析结果一致。
To investigate the origins and relationships of Australian and Melanesian populations, 611 males from 18 populations from Australia, Melanesia, and eastern/southeastern Asia were typed for eight single-nucleotide polymorphism (SNP) loci and seven short tandem-repeat loci on the Y chromosome. A unique haplotype, DYS330.1del/RPS4Y711T, was found at a frequency of 53%-69% in Australian populations, whereas the major haplotypes found in Melanesian populations (M4G/M5T/M9G and DYS390.3del/RPS4Y711T) are absent from the Australian populations. The Y-chromosome data thus indicate independent histories for Australians and Melanesians, a finding that is in agreement with evidence from mtDNA but that contradicts some analyses of autosomal loci, which show a close relationship between Australian and Melanesian (specifically, highland Papua New Guinean) populations. Since the Australian and New Guinean landmasses were connected when first colonized by humans greater than or equal to 50,000 years ago but separated some 8,000 years ago, a possible way to reconcile all the genetic data is to infer that the Y-chromosome and mtDNA results reflect the past 8,000 years of independent history for Australia and New Guinea, whereas the autosomal loci reflect the long preceding period of common origin and shared history. Two Y-chromosome haplotypes (M119C/M9G and M122C/M9G) that originated in eastern/southeastern Asia are present in coastal and island Melanesia but are rare or absent in both Australia and highland Papua New Guinea. This distribution, along with demographic analyses indicating that population expansions for both haplotypes began similar to4,000-6,000 years ago, suggests that these haplotypes were brought to Melanesia by the Austronesian expansion. Most of the populations in this study were previously typed for mtDNA SNPs; population differentiation is greater for the Y chromosome than for mtDNA and is significantly correlated with geographic distance, a finding in agreement with results of similar analyses of European populations.