Phylogenetic resolution of complex mutational features at Y-STR DYS390 in Aboriginal Australians and Papuans
Phylogenetic resolution of complex mutational features at Y-STR DYS390 in Aboriginal Australians and Papuans
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DOI：
10.1093/oxfordjournals.molbev.a026018
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发表时间：
1998-09-01
影响因子：
10.7
通讯作者：
Brinkmann, B
中科院分区：
文献类型：
--
作者：
Forster, P;Kayser, M;Brinkmann, B
Y染色体短串联重复序列（STR）用于研究人类进化的男性方面以及法医应用和亲子鉴定。这两个应用程序都需要了解产生变异性的潜在突变机制。我们描述了复杂的突变在亚结构DYS 390 STR基因座在97个本地人的新几内亚/澳大利亚地区。这些人群中短等位基因的测序表明多重复缺失。所有样品使用五个另外的Y-STR基因座DYS 19、DXYS 156-Y、DYS 391、DYS 392和DYS 393进一步表征。系统发育分析所产生的单倍型产生的种族特定集群早于解决澳大利亚和巴布亚新几内亚（虽然古代智人或直立人血统缺席）。突变发生证实DYS 390违反了逐步突变模型，并表明DYS 390基因座突变相对较快，并在结构变化后保持其变异性。
Y-chromosomal short tandem repeats (STRs) are used for the study of male aspects of human evolution as well as for forensic applications and paternity testing. Both applications require an understanding of the underlying mutational mechanisms that create variability. We describe complex mutations at the substructured DYS390 STR locus in 97 natives of the New Guinea/Australian region. Sequencing of short alleles in these populations indicates multirepeat deletions. All samples are further characterized using the five additional Y-STR loci DYS19, DXYS156-Y, DYS391, DYS392, and DYS393. Phylogenetic analysis of the resulting haplotypes yields ethnically specific clusters predating the settlement of Australia and Papua New Guinea (although archaic Home sapiens or Homo erectus lineages are absent). The phylogeny confirms that DYS390 violates the stepwise mutation model and demonstrates that the DYS390 locus mutates relatively rapidly and retains its variability after structural change.