GSTDTAP  > 地球科学
DOI10.1126/science.aau1043
Characterizing mutagenic effects of recombination through a sequence-level genetic map
Halldorsson, Bjarni V.1,2; Palsson, Gunnar1; Stefansson, Olafur A.1; Jonsson, Hakon1; Hardarson, Marteinn T.1; Eggertsson, Hannes P.1,3; Gunnarsson, Bjarni1; Oddsson, Asmundur1; Halldorsson, Gisli H.1; Zink, Florian1; Gudjonsson, Sigurjon A.1; Frigge, Michael L.1; Thorleifsson, Gudmar1; Sigurdsson, Asgeir1; Stacey, Simon N.1; Sulem, Patrick1; Masson, Gisli1; Helgason, Agnar1,4; Gudbjartsson, Daniel F.1,3; Thorsteinsdottir, Unnur1,5; Stefansson, Karl1,5
2019-01-25
发表期刊SCIENCE
ISSN0036-8075
EISSN1095-9203
出版年2019
卷号363期号:6425页码:364-+
文章类型Article
语种英语
国家Iceland
英文摘要

Genetic diversity arises from recombination and de novo mutation (DNM). Using a combination of microarray genotype and whole-genome sequence data on parent-child pairs, we identified 4,531,535 crossover recombinations and 200,435 DNMs. The resulting genetic map has a resolution of 682 base pairs. Crossovers exhibit a mutagenic effect, with overrepresentation of DNMs within 1 kilobase of crossovers in males and females. In females, a higher mutation rate is observed up to 40 kilobases from crossovers, particularly for complex crossovers, which increase with maternal age. We identified 35 loci associated with the recombination rate or the location of crossovers, demonstrating extensive genetic control of meiotic recombination, and our results highlight genes linked to the formation of the synaptonemal complex as determinants of crossovers.


领域地球科学 ; 气候变化 ; 资源环境
收录类别SCI-E
WOS记录号WOS:000456871800029
WOS关键词SISTER-CHROMATID COHESION ; STRAND BREAK FORMATION ; DE-NOVO MUTATIONS ; MEIOTIC RECOMBINATION ; SYNAPTONEMAL COMPLEX ; DNA METHYLATION ; PROTEIN ; PRDM9 ; SMC1-BETA ; RATES
WOS类目Multidisciplinary Sciences
WOS研究方向Science & Technology - Other Topics
引用统计
文献类型期刊论文
条目标识符http://119.78.100.173/C666/handle/2XK7JSWQ/200615
专题地球科学
资源环境科学
气候变化
作者单位1.Amgen Inc, deCODE Genet, Sturlugata 8, Reykjavik, Iceland;
2.Reykjavik Univ, Sch Sci & Engn, Reykjavik, Iceland;
3.Univ Iceland, Sch Engn & Nat Sci, Reykjavik, Iceland;
4.Univ Iceland, Dept Anthropol, Reykjavik, Iceland;
5.Univ Iceland, Sch Hlth Sci, Fac Med, Reykjavik, Iceland
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GB/T 7714
Halldorsson, Bjarni V.,Palsson, Gunnar,Stefansson, Olafur A.,et al. Characterizing mutagenic effects of recombination through a sequence-level genetic map[J]. SCIENCE,2019,363(6425):364-+.
APA Halldorsson, Bjarni V..,Palsson, Gunnar.,Stefansson, Olafur A..,Jonsson, Hakon.,Hardarson, Marteinn T..,...&Stefansson, Karl.(2019).Characterizing mutagenic effects of recombination through a sequence-level genetic map.SCIENCE,363(6425),364-+.
MLA Halldorsson, Bjarni V.,et al."Characterizing mutagenic effects of recombination through a sequence-level genetic map".SCIENCE 363.6425(2019):364-+.
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