Small Segmental Duplications in DrosophilaHigh Rate of Emergence and Elimination

	Small Segmental Duplications in DrosophilaHigh Rate of Emergence and Elimination
	Li, J; Jiang, L; Wu, CI; Lu, XM; Fang, S; Ting, CT
	2019
发表期刊	GENOME BIOLOGY AND EVOLUTION
ISSN	1759-6653
卷号	11 期号:2 页码:486-496
摘要	Segmental duplications are an important class of mutations. Because a large proportion of segmental duplications may often be strongly deleterious, high frequency or fixed segmental duplications may represent only a tiny fraction of the mutational input. To understand the emergence and elimination of segmental duplications, we survey polymorphic duplications, including tandem and interspersed duplications, in natural populations of Drosophila by haploid embryo genomes. As haploid embryos are not expected to be heterozygous, the genome, sites of heterozygosity (referred to as pseudoheterozygous sites [PHS]), may likely represent recent duplications that have acquired new mutations. Among the 29 genomes of Drosophila melanogaster, we identify 2,282 polymorphic PHS duplications (linked PHS regions) in total or 154 PHS duplications per genome. Most PHS duplications are small (83.4% < 500bp), Drosophila melanogaster lineage specific, and strain specific (72.6% singletons). The excess of the observed singleton PHS duplications deviates significantly from the neutral expectation, suggesting that most PHS duplications are strongly deleterious. In addition, these small segmental duplications are not evenly distributed in genomic regions and less common in noncoding functional element regions. The underrepresentation in RNA polymerase II binding sites and regions with active histone modifications is correlated with ages of duplications. In conclusion, small segmental duplications occur frequently in Drosophila but rapidly eliminated by natural selection.
收录类别	sci
语种	英语
文献类型	期刊论文
条目标识符	http://ir.kiz.ac.cn/handle/152453/13144
专题	科研部门_适应性进化与进化医学（吕雪梅）昆明动物研究所
推荐引用方式 GB/T 7714	Li, J,Jiang, L,Wu, CI,et al. Small Segmental Duplications in DrosophilaHigh Rate of Emergence and Elimination[J]. GENOME BIOLOGY AND EVOLUTION,2019,11(2):486-496.
APA	Li, J,Jiang, L,Wu, CI,Lu, XM,Fang, S,&Ting, CT.(2019).Small Segmental Duplications in DrosophilaHigh Rate of Emergence and Elimination.GENOME BIOLOGY AND EVOLUTION,11(2),486-496.
MLA	Li, J,et al."Small Segmental Duplications in DrosophilaHigh Rate of Emergence and Elimination".GENOME BIOLOGY AND EVOLUTION 11.2(2019):486-496.

条目包含的文件
文件名称/大小	文献类型	版本类型	开放类型	使用许可
2023022111.pdf（494KB）	期刊论文	出版稿	开放获取	CC BY-NC-SA	请求全文