Halldorsson Bjarni V, Hardarson Marteinn T, Kehr Birte, Styrkarsdottir Unnur, Gylfason Arnaldur, Thorleifsson Gudmar, Zink Florian, Jonasdottir Adalbjorg, Jonasdottir Aslaug, Sulem Patrick, Masson Gisli, Thorsteinsdottir Unnur, Helgason Agnar, Kong Augustine, Gudbjartsson Daniel F, Stefansson Kari
deCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
School of Science and Engineering, Reykjavik University, Reykjavik, Iceland.
Nat Genet. 2016 Nov;48(11):1377-1384. doi: 10.1038/ng.3669. Epub 2016 Sep 19.
Meiotic recombination involves a combination of gene conversion and crossover events that, along with mutations, produce germline genetic diversity. Here we report the discovery of 3,176 SNP and 61 indel gene conversions. Our estimate of the non-crossover (NCO) gene conversion rate (G) is 7.0 for SNPs and 5.8 for indels per megabase per generation, and the GC bias is 67.6%. For indels, we demonstrate a 65.6% preference for the shorter allele. NCO gene conversions from mothers are longer than those from fathers, and G is 2.17 times greater in mothers. Notably, G increases with the age of mothers, but not the age of fathers. A disproportionate number of NCO gene conversions in older mothers occur outside double-strand break (DSB) regions and in regions with relatively low GC content. This points to age-related changes in the mechanisms of meiotic gene conversion in oocytes.
减数分裂重组涉及基因转换和交叉事件的组合，这些事件与突变一起产生种系遗传多样性。在此，我们报告发现了3176个单核苷酸多态性（SNP）和61个插入缺失（indel）基因转换。我们估计，每代每兆碱基的非交叉（NCO）基因转换率（G）对于SNP为7.0，对于indel为5.8，GC偏差为67.6%。对于indel，我们证明对较短等位基因的偏好为65.6%。来自母亲的NCO基因转换比来自父亲的更长，母亲的G比父亲大2.17倍。值得注意的是，G随着母亲年龄的增长而增加，但不随父亲年龄的增长而增加。年龄较大的母亲中，不成比例数量的NCO基因转换发生在双链断裂（DSB）区域之外以及GC含量相对较低的区域。这表明卵母细胞减数分裂基因转换机制存在与年龄相关的变化。
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