The origins and impact of primate segmental duplications

被引：119

作者：

Marques-Bonet, Tomas ^{[1
,2
]}

Girirajan, Santhosh ^{[1
]}

Eichler, Evan E. ^{[1
,3
]}

机构：

[1] Univ Washington, Sch Med, Dept Genome Sci, Seattle, WA 98195 USA

[2] CSIC, UPF, Inst Biol Evolut, E-08003 Barcelona, Catalonia, Spain

[3] Howard Hughes Med Inst, Seattle, WA USA

来源：

TRENDS IN GENETICS | 2009年 / 25卷 / 10期

关键词：

LINEAGE-SPECIFIC AMPLIFICATION; COPY-NUMBER VARIATION; GENOMIC DISORDERS; GENE DUPLICATION; STRUCTURAL VARIATION; EVOLUTION; REARRANGEMENTS; CHIMPANZEE; INVERSION; SEQUENCE;

D O I：

10.1016/j.tig.2009.08.002

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：443 / 454

页数：12

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