Human mutation rate associated with DNA replication timing.

Human mutation rate associated with DNA replication timing.
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DOI:
10.1038/ng.363
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发表时间:
2009-04
期刊:
影响因子:
30.8
通讯作者:
Sunyaev, Shamil R.
Sunyaev, Shamil R.
中科院分区:
生物学1区
文献类型:
--
作者:
Stamatoyannopoulos, John A.;Adzhubei, Ivan;Thurman, Robert E.;Kryukov, Gregory V.;Mirkin, Sergei M.;Sunyaev, Shamil R.

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真核生物的DNA复制是高度分层的,在S时期,不同的基因组区域在特定的时间复制。在这里,我们观察到,突变率,如最近的进化分歧和人类核苷酸多样性所反映的,在人类基因组的后期复制区域显著增加。所有类别的替换都会受到影响,这表明了一种涉及复制时间依赖的DNA损伤的普遍机制。突变率和区域分层复制时间之间的这种相关性可能具有实质性的进化意义。
Eukaryotic DNA replication is highly stratified, with different genomic regions shown to replicate at characteristic times during S phase. Here we observe that mutation rate, as reflected in recent evolutionary divergence and human nucleotide diversity, is markedly increased in later-replicating regions of the human genome. All classes of substitutions are affected, suggesting a generalized mechanism involving replication time-dependent DNA damage. This correlation between mutation rate and regionally stratified replication timing may have substantial evolutionary implications.
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