Diversity of Human Copy Number Variation and Multicopy Genes

被引：505

作者：

Sudmant, Peter H. ^{[1
]}

Kitzman, Jacob O. ^{[1
]}

Antonacci, Francesca ^{[1
]}

Alkan, Can ^{[1
]}

Malig, Maika ^{[1
]}

Tsalenko, Anya ^{[2
]}

Sampas, Nick ^{[2
]}

Bruhn, Laurakay ^{[2
]}

Shendure, Jay ^{[1
]}

Eichler, Evan E. ^{[1
,3
]}

机构：

[1] Univ Washington, Sch Med, Dept Genome Sci, Seattle, WA 98195 USA

[2] Agilent Technol, Santa Clara, CA 95051 USA

[3] Howard Hughes Med Inst, Seattle, WA 98195 USA

来源：

SCIENCE | 2010年 / 330卷 / 6004期

基金：

加拿大自然科学与工程研究理事会;

关键词：

HUMAN GENOME; SEGMENTAL DUPLICATIONS; HUMAN-DISEASE; EVOLUTION; SCHIZOPHRENIA; POLYMORPHISMS; CONVERSION; SELECTION; DELETION; 15Q13.3;

D O I：

10.1126/science.1197005

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

Copy number variants affect both disease and normal phenotypic variation, but those lying within heavily duplicated, highly identical sequence have been difficult to assay. By analyzing short-read mapping depth for 159 human genomes, we demonstrated accurate estimation of absolute copy number for duplications as small as 1.9 kilobase pairs, ranging from 0 to 48 copies. We identified 4.1 million "singly unique nucleotide" positions informative in distinguishing specific copies and used them to genotype the copy and content of specific paralogs within highly duplicated gene families. These data identify human-specific expansions in genes associated with brain development, reveal extensive population genetic diversity, and detect signatures consistent with gene conversion in the human species. Our approach makes similar to 1000 genes accessible to genetic studies of disease association.

引用

页码：641 / 646

页数：6

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