Genetic variation in human DNA replication timing.
Genetic variation in human DNA replication timing.
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DOI：
10.1016/j.cell.2014.10.025
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发表时间：
2014-11-20
期刊：
影响因子：
64.5
通讯作者：
McCarroll SA
中科院分区：
文献类型：
--
作者：
Koren A;Handsaker RE;Kamitaki N;Karlić R;Ghosh S;Polak P;Eggan K;McCarroll SA
Genomic DNA replicates in a choreographed temporal order that impacts the distribution of mutations along the genome. We show here that DNA replication timing is shaped by genetic polymorphisms that act in cis upon megabase-scale DNA segments. In genome sequences from proliferating cells, read depth along chromosomes reflected DNA replication activity in those cells. We used this relationship to analyze variation in replication timing among 161 individuals sequenced by the 1000 Genomes Project. Genome-wide association of replication timing with genetic variation identified 16 loci at which inherited alleles associate with replication timing. We call these “replication timing quantitative trait loci” (rtQTLs). rtQTLs involved the differential use of replication origins, exhibited allele-specific effects on replication timing, and associated with gene expression variation at megabase scales. Our results show replication timing to be shaped by genetic polymorphism, and identify a means by which inherited polymorphism regulates the mutability of nearby sequences.
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影响因子：
64.8
作者：
Ernst, Jason;Kheradpour, Pouya;Mikkelsen, Tarjei S.;Shoresh, Noam;Ward, Lucas D.;Epstein, Charles B.;Zhang, Xiaolan;Wang, Li;Issner, Robbyn;Coyne, Michael;Ku, Manching;Durham, Timothy;Kellis, Manolis;Bernstein, Bradley E.
通讯作者：
Bernstein, Bradley E.
影响因子：
1.3
作者：
Dimitriadou E;Van der Aa N;Cheng J;Voet T;Vermeesch JR
通讯作者：
Vermeesch JR
影响因子：
64.8
作者：
通讯作者：
--
来自1,092个人基因组的遗传变异的综合图。
影响因子：
64.8
作者：
通讯作者：
--
影响因子：
64.5
作者：
Barlow JH;Faryabi RB;Callén E;Wong N;Malhowski A;Chen HT;Gutierrez-Cruz G;Sun HW;McKinnon P;Wright G;Casellas R;Robbiani DF;Staudt L;Fernandez-Capetillo O;Nussenzweig A
通讯作者：
Nussenzweig A