The Origins and Impact of Primate Segmental Duplications

Overview

Journal Trends Genet

Specialty Genetics

Date 2009 Oct 3

PMID 19796838

Citations 86

Authors

Tomas Marques-Bonet

Santhosh Girirajan

Evan E Eichler

Affiliations

Soon will be listed here.

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.

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