The origins and impact of primate segmental duplications

Tomas Marques-Bonet, Santhosh Girirajan, Evan E. Eichler

Research output: Contribution to journalReview articlepeer-review

101 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)443-454
Number of pages12
JournalTrends in Genetics
Volume25
Issue number10
DOIs
StatePublished - Oct 2009

All Science Journal Classification (ASJC) codes

  • Genetics

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