Recombination rate and reproductive success in humans

Recombination rate and reproductive success in humans
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DOI:
10.1038/ng1445
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发表时间:
2004-11-01
期刊:
影响因子:
30.8
通讯作者:
Stefansson, K
Stefansson, K
中科院分区:
生物学1区
文献类型:
--
作者:
Kong, A;Barnard, J;Stefansson, K

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配子体发生过程中同源染色体减数分裂重组产生的DNA代际混合是真核生物基因组多样性产生的重要事件。我们分析了23,066个个体的全基因组微卫星数据,提供了14,140个母体和父亲减数分裂的重组事件信息,并发现后代的母体重组计数与母亲年龄呈正相关。我们假设卵子的重组率不随母亲年龄的增加而增加,而明显的增加是选择的结果。具体来说,高重组数增加了配子成为活产儿的机会,并且随着母亲年龄的增长,这种影响变得更加明显。我们的观察进一步支持了这一假设,即卵母细胞重组率高的母亲往往有更多的孩子。因此,重组不仅在自然选择中产生不同的基因变体组合,从而在进化中发挥作用,而且它们本身也处于选择之下。
Intergenerational mixing of DNA through meiotic recombinations of homologous chromosomes during gametogenesis is a major event that generates diversity in the eukaryotic genome. We examined genome-wide microsatellite data for 23,066 individuals, providing information on recombination events of 14,140 maternal and paternal meioses each, and found a positive correlation between maternal recombination counts of an offspring and maternal age. We postulated that the recombination rate of eggs does not increase with maternal age, but that the apparent increase is the consequence of selection. Specifically, a high recombination count increased the chance of a gamete becoming a live birth, and this effect became more pronounced with advancing maternal age. Further support for this hypothesis came from our observation that mothers with high oocyte recombination rate tend to have more children. Hence, not only do recombinations have a role in evolution by yielding diverse combinations of gene variants for natural selection, but they are also under selection themselves.