Differences in DYF387S1 copy number distribution among haplogroups caused by haplogroup-specific ancestral Y-chromosome mutations
Differences in DYF387S1 copy number distribution among haplogroups caused by haplogroup-specific ancestral Y-chromosome mutations
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DOI：
10.1016/j.fsigen.2020.102315
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发表时间：
2020-09-01
影响因子：
3.1
通讯作者：
Mizuno, Natsuko
中科院分区：
文献类型：
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作者：
Watahiki, Haruhiko;Fujii, Koji;Mizuno, Natsuko
DYF 387 S1是法医遗传学中使用的主要Y染色体短串联重复序列（Y-STR），其包括在Y染色体单倍型参考数据库（YHRD，https://yhrd.org）中，并且其被称为快速突变的YSTR。DYF 387 S1是一个多位点标记，两个旁系同源物位于一个回文序列内，该序列是一个易于发生染色体结构突变的区域。在这项研究中，我们调查了DYF 387 S1的拷贝数分布，并在日本人群中分别对两个DYF 387 S1旁系同源物进行分型。我们发现不同的DYF 387 S1拷贝数之间的单倍型群，表明差异已引起的单倍型群特异性祖先Y染色体突变，如删除，重复和非等位基因转换。在单倍群C中，很可能在副群C-M130* 的共同祖先Y染色体中发生了两个DYF 387 S1旁系同源物之间的基因转换，并且在单倍群C-M131的共同祖先Y染色体中发生了DYF 387 S1的复制。同时，在单倍群D中，上游DYF 387 S1副染色体的缺失可能发生在副群D-M57* 的共同祖先Y染色体中，并且在单倍群D-M125的共同祖先Y染色体中指示了剩余DYF 387 S1副染色体的重复。在单倍群O中，改变DYF 387 S1拷贝数的结构突变可能没有发生在共同的祖先Y染色体上。我们还认为，单倍群N中发生了一个DYF 387 S1等位基因的缺失，单倍群Q中发生了一个DYF 387 S1等位基因的缺失或DYF 387 S1基因的转换。这是第一项在大型人群数据集中单独分型两种DYF 387 S1旁系同源物的研究。由于单倍群C、D、N、O和Q也在其他人群中观察到，因此本研究表明的祖先突变事件可能影响了世界其他地区的DYF 387 S1多态性。
DYF387S1 is a major Y-chromosome short tandem repeat (Y-STR) used in forensic genetics that is included in the Y-chromosomal haplotype reference database (YHRD, https://yhrd.org) and it is known as a rapidly mutating YSTR. DYF387S1 is a multi-locus marker and the two paralogs are within a palindromic sequence which is a region prone to structural chromosome mutation. In this study, we investigated DYF387S1 copy number distribution and separately typed the two DYF387S1 paralogs in a Japanese population. We found different DYF387S1 copy numbers among haplogroups indicating that the differences had been caused by haplogroupspecific ancestral Y-chromosomal mutations, such as deletion, duplication and non-allelic gene conversion. In haplogroup C, it is likely that gene conversion between two DYF387S1 paralogs had occurred in the common ancestral Y-chromosome for paragroup C-M130* and duplication of DYF387S1 had occurred in the common ancestral Y-chromosome for haplogroup C-M131. Meanwhile, in haplogroup D, deletion of the upstream DYF387S1 paralog is likely to have occurred in the common ancestral Y-chromosome for paragroup D-M57* and duplication of the remaining DYF387S1 paralog is indicated in the common ancestral Y-chromosome for haplogroup D-M125. In haplogroup O, structural mutations changing the DYF387S1 copy number had probably not occurred in the common ancestral Y-chromosome. We also suggest that deletion of one DYF387S1 paralog occurred in haplogroup N and that deletion of one DYF387S1 paralog or DYF387S1 gene conversion occurred in haplogroup Q. This is the first study that has separately typed the two DYF387S1 paralogs in a large population dataset. As haplogroups C, D, N, O and Q are also observed in other populations, the ancestral mutation events indicated by this study may have affected DYF387S1 polymorphism in other areas of the world.