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PMID: 19796838 Published · ppublish English Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Review

The origins and impact of primate segmental duplications.

Trends in genetics : TIG ·Vol. 25 ·No. 10 ·2009-10-00 ·Pages 443-54

Marques-Bonet T, Girirajan S, Eichler EE

Abstract

Duplicated sequences are substrates for the emergence of new genes and are an important source of genetic instability associated with rare and common diseases. Analyses of primate genomes have shown an increase in the proportion of interspersed segmental duplications (SDs) within the genomes of humans and great apes. This contrasts with other mammalian genomes that seem to have their recently duplicated sequences organized in a tandem configuration. In this review, we focus on the mechanistic origin and impact of this difference with respect to evolution, genetic diversity and primate phenotype. Although many genomes will be sequenced in the future, resolution of this aspect of genomic architecture still requires high quality sequences and detailed analyses.

MeSH Terms
Animals Evolution, Molecular Gene Duplication Genetic Variation Genome/genetics Humans Interspersed Repetitive Sequences/genetics Models, Genetic Phylogeny Primates/genetics
Authors & Affiliations
3 authors, click to expand affiliations / ORCID
Marques-Bonet Tomas
Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Girirajan Santhosh
Eichler Evan E
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Article Info
Journal
Trends in genetics : TIG
Abbr.
Trends Genet
ISSN
0168-9525
DOI
10.1016/j.tig.2009.08.002
Published
2009-10-00
Epub
2009-00-30
Pages
443-54
Language
English
Region
England
NLM ID
8507085
PMCID
PMC2847396
Subset
IM
Grants
NIGMS NIH HHS · R01 GM058815 · United States
NHGRI NIH HHS · R01 HG002385-09 · United States
NIGMS NIH HHS · GM058815 · United States
NHGRI NIH HHS · HG002385 · United States
Howard Hughes Medical Institute · United States
NIGMS NIH HHS · R01 GM058815-12 · United States
NHGRI NIH HHS · R01 HG002385 · United States
External Links
PubMed source DOI: 10.1016/j.tig.2009.08.002 PMC Full Text View journal details
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