Global S&T Development Trend Analysis Platform of Resources and Environment
DOI | 10.1126/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
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ISSN | 0036-8075 |
EISSN | 1095-9203 |
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 |
推荐引用方式 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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