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DOI | 10.1126/science.aah5238 |
Negative selection in humans and fruit flies involves synergistic epistasis | |
Sohail, Mashaal1,2,3; Vakhrusheva, Olga A.4; Sul, Jae Hoon5; Pulit, Sara L.6,7; Francioli, Laurent C.7; van den Berg, Leonard H.6; Veldink, Jan H.6; de Bakker, Paul I. W.7,8; Bazykin, Georgii A.4,9; Kondrashov, Alexey S.10,11; Sunyaev, Shamil R.2,3 | |
2017-05-05 | |
发表期刊 | SCIENCE |
ISSN | 0036-8075 |
EISSN | 1095-9203 |
出版年 | 2017 |
卷号 | 356期号:6337页码:539-542 |
文章类型 | Article |
语种 | 英语 |
国家 | USA; Russia; Netherlands |
英文摘要 | Negative selection against deleterious alleles produced by mutation influences within-population variation as the most pervasive form of natural selection. However, it is not known whether deleterious alleles affect fitness independently, so that cumulative fitness loss depends exponentially on the number of deleterious alleles, or synergistically, so that each additional deleterious allele results in a larger decrease in relative fitness. Negative selection with synergistic epistasis should produce negative linkage disequilibrium between deleterious alleles and, therefore, an underdispersed distribution of the number of deleterious alleles in the genome. Indeed, we detected underdispersion of the number of rare loss-of-function alleles in eight independent data sets from human and fly populations. Thus, selection against rare protein-disrupting alleles is characterized by synergistic epistasis, which may explain how human and fly populations persist despite high genomic mutation rates. |
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:000400545700038 |
WOS关键词 | EVOLUTIONARY ADVANTAGE ; DELETERIOUS MUTATIONS ; POPULATION ; RECOMBINATION ; INSIGHTS ; FITNESS ; LOAD ; SEX |
WOS类目 | Multidisciplinary Sciences |
WOS研究方向 | Science & Technology - Other Topics |
URL | 查看原文 |
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/195988 |
专题 | 地球科学 资源环境科学 气候变化 |
作者单位 | 1.Harvard Med Sch, Syst Biol PhD Program, Boston, MA USA; 2.Harvard Med Sch, Brigham & Womens Hosp, Div Genet, Dept Med, Boston, MA 02115 USA; 3.Harvard Med Sch, Dept Biomed Informat, Boston, MA 02115 USA; 4.Russian Acad Sci, Kharkevich Inst, Inst Informat Transmiss Problems, Moscow, Russia; 5.Univ Calif Los Angeles, Dept Psychiat & Biobehav Sci, Los Angeles, CA 90024 USA; 6.Univ Med Ctr Utrecht, Brain Ctr Rudolf Magnus, Dept Neurol & Neurosurg, Utrecht, Netherlands; 7.Univ Med Ctr Utrecht, Dept Genet, Ctr Mol Med, Utrecht, Netherlands; 8.Univ Med Ctr Utrecht, Dept Epidemiol, Julius Ctr Hlth Sci & Primary Care, Utrecht, Netherlands; 9.Skolkovo Inst Sci & Technol, Skolkovo, Russia; 10.Moscow MV Lomonosov State Univ, Dept Bioengn & Bioinformat, Moscow, Russia; 11.Univ Michigan, Dept Ecol & Evolutionary Biol, Ann Arbor, MI 48109 USA |
推荐引用方式 GB/T 7714 | Sohail, Mashaal,Vakhrusheva, Olga A.,Sul, Jae Hoon,et al. Negative selection in humans and fruit flies involves synergistic epistasis[J]. SCIENCE,2017,356(6337):539-542. |
APA | Sohail, Mashaal.,Vakhrusheva, Olga A..,Sul, Jae Hoon.,Pulit, Sara L..,Francioli, Laurent C..,...&Sunyaev, Shamil R..(2017).Negative selection in humans and fruit flies involves synergistic epistasis.SCIENCE,356(6337),539-542. |
MLA | Sohail, Mashaal,et al."Negative selection in humans and fruit flies involves synergistic epistasis".SCIENCE 356.6337(2017):539-542. |
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