The Y-chromosome point mutation rate in humans
The Y-chromosome point mutation rate in humans
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DOI：
10.1038/ng.3171
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发表时间：
2015-05-01
期刊：
影响因子：
30.8
通讯作者：
Stefansson, Kari
中科院分区：
文献类型：
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作者：
Helgason, Agnar;Einarsson, Axel W.;Stefansson, Kari
突变是生物变异的基本来源，其速率是进化和医学研究的关键参数。在这里，我们使用了来自753名冰岛男性的全基因组序列数据，分为274个父系，在1，365次减数分裂（47，123年）的基础上估计了21.3 Mb男性特异性Y染色体（MSY）序列的点突变率。15.2 Mb的X-简并（XDG）、X-转座（XTR）和扩增产物不包括回文（rAMP）序列的组合突变率为8.71 × 10（-10）个突变/位置/年（PPPY）。我们观察到6.1 Mb回文序列（PAL）的发生率较低（P = 0.04），为7.37 x 10（-10）PPPY，这与父系传播常染色体的发生率7.2 x 10（-10）PPPY没有统计学差异1。我们假设PAL和其他MSY区域之间的差异可能提供了一个指示的新生常染色体和PAL从头突变的修复率作为基因转换的结果。
Mutations are the fundamental source of biological variation, and their rate is a crucial parameter for evolutionary and medical studies. Here we used whole-genome sequence data from 753 Icelandic males, grouped into 274 patrilines, to estimate the point mutation rate for 21.3 Mb of male-specific Y chromosome (MSY) sequence, on the basis of 1,365 meioses (47,123 years). The combined mutation rate for 15.2 Mb of X-degenerate (XDG), X-transposed (XTR) and ampliconic excluding palindromes (rAMP) sequence was 8.71 x 10(-10) mutations per position per year (PPPY). We observed a lower rate (P = 0.04) of 7.37 x 10(-10) PPPY for 6.1 Mb of sequence from palindromes (PAL), which was not statistically different from the rate of 7.2 x 10(-10) PPPY for paternally transmitted autosomes1. We postulate that the difference between PAL and the other MSY regions may provide an indication of the rate at which nascent autosomal and PAL de novo mutations are repaired as a result of gene conversion.