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          Institute: MPI für evolutionäre Anthropologie     Collection: Publications MPI for Evolutionary Anthropology     Display Documents

ID: 251619.0, MPI für evolutionäre Anthropologie / Publications MPI for Evolutionary Anthropology
A genome-wide comparison of recent chimpanzee and human segmental duplications
Authors:Cheng, Ze; Ventura, Mario; She, Xinwei; Khaitovich, Philipp; Graves, Tina A.; Osoegawa, K.; Church, D.; de Jong, Pieter; Wilson, Richard K.; Pääbo, Svante; Rocchi, Mariano; Eichler, Evan E.
Date of Publication (YYYY-MM-DD):2005-09-01
Title of Journal:Nature
Issue / Number:7055
Start Page:88
End Page:93
Review Status:not specified
Audience:Not Specified
Abstract / Description:We present a global comparison of differences in content of segmental duplication between human and chimpanzee, and determine that 33% of human duplications (>94% sequence identity) are not duplicated in chimpanzee, including some human disease-causing duplications. Combining experimental and computational approaches, we estimate a genomic duplication rate of 4 - 5 megabases per million years since divergence. These changes have resulted in gene expression differences between the species. In terms of numbers of base pairs affected, we determine that de novo duplication has contributed most significantly to differences between the species, followed by deletion of ancestral duplications. Post-speciation gene conversion accounts for less than 10% of recent segmental duplication. Chimpanzee-specific hyperexpansion (. 100 copies) of particular segments of DNA have resulted in marked quantitative differences and alterations in the genome landscape between chimpanzee and human. Almost all of the most extreme differences relate to changes in chromosome structure, including the emergence of African great ape subterminal heterochromatin. Nevertheless, base per base, large segmental duplication events have had a greater impact (2.7%) in altering the genomic landscape of these two species than single-base-pair substitution (1.2%). [References: 30]
Free Keywords:Human-chromosomes
; Gene family
; Evolution
; Regions
; Rearrangements
; Selection
; Patterns
; Sequence
; Mouse.
External Publication Status:published
Document Type:Article
Communicated by:Gisela Lausberg
Affiliations:MPI für evolutionäre Anthropologie/Department of Evolutionary Genetics
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