作者
Peter H Sudmant, John Huddleston, Claudia R Catacchio, Maika Malig, LaDeana W Hillier, Carl Baker, Kiana Mohajeri, Ivanela Kondova, Ronald E Bontrop, Stephan Persengiev, Francesca Antonacci, Mario Ventura, Javier Prado-Martinez, Tomas Marques-Bonet, Evan E Eichler, Great Ape Genome Project
发表日期
2013/9/1
期刊
Genome research
卷号
23
期号
9
页码范围
1373-1382
出版商
Cold Spring Harbor Lab
简介
Copy number variation (CNV) contributes to disease and has restructured the genomes of great apes. The diversity and rate of this process, however, have not been extensively explored among great ape lineages. We analyzed 97 deeply sequenced great ape and human genomes and estimate 16% (469 Mb) of the hominid genome has been affected by recent CNV. We identify a comprehensive set of fixed gene deletions (n = 340) and duplications (n = 405) as well as >13.5 Mb of sequence that has been specifically lost on the human lineage. We compared the diversity and rates of copy number and single nucleotide variation across the hominid phylogeny. We find that CNV diversity partially correlates with single nucleotide diversity (r2 = 0.5) and recapitulates the phylogeny of apes with few exceptions. Duplications significantly outpace deletions (2.8-fold). The load of segregating duplications remains …
引用总数
20132014201520162017201820192020202120222023202431918162115121912171511
学术搜索中的文章