Evolution of Human-Specific Neural SRGAP2 Genes by Incomplete Segmental Duplication

被引：275

作者：

Dennis, Megan Y. ^{[1
]}

Nuttle, Xander ^{[1
]}

Sudmant, Peter H. ^{[1
]}

Antonacci, Francesca ^{[1
]}

Graves, Tina A. ^{[3
]}

Nefedov, Mikhail ^{[4
]}

Rosenfeld, Jill A. ^{[5
]}

Sajjadian, Saba ^{[1
]}

Malig, Maika ^{[1
]}

Kotkiewicz, Holland ^{[3
]}

Curry, Cynthia J. ^{[6
]}

Shafer, Susan ^{[7
]}

Shaffer, Lisa G. ^{[5
]}

de Jong, Pieter J. ^{[4
]}

Wilson, Richard K. ^{[3
]}

Eichler, Evan E. ^{[1
,2
]}

机构：

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

[2] Univ Washington, Sch Med, Howard Hughes Med Inst, Seattle, WA 98195 USA

[3] Washington Univ, Sch Med, Genome Inst, St Louis, MO 63110 USA

[4] Childrens Hosp & Res Ctr Oakland, Childrens Hosp Oakland Res Inst, Oakland, CA 94609 USA

[5] PerkinElmer Inc, Signature Genom Labs, Spokane, WA 99207 USA

[6] Univ Calif San Francisco, Fresno, CA 93701 USA

[7] Carle Clin Assoc, Urbana, IL 61801 USA

来源：

CELL | 2012年 / 149卷 / 04期

基金：

美国国家卫生研究院;

关键词：

COPY-NUMBER VARIATION; UPPER MIOCENE; DNA-SEQUENCE; HOMINID; GENOME; CONSTRUCTION; POLYMORPHISM; MIGRATION; RESOURCE; ORIGIN;

D O I：

10.1016/j.cell.2012.03.033

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Gene duplication is an important source of phenotypic change and adaptive evolution. We leverage a haploid hydatidiform mole to identify highly identical sequences missing from the reference genome, confirming that the cortical development gene Slit-Robo RhoGTPase-activating protein 2 (SRGAP2) duplicated three times exclusively in humans. We show that the promoter and first nine exons of SRGAP2 duplicated from 1q32.1 (SRGAP2A) to 1q21.1 (SRGAP2B) similar to 3.4 million years ago (mya). Two larger duplications later copied SRGAP2B to chromosome 1p12 (SRGAP2C) and to proximal 1q21.1 (SRGAP2D) similar to 2.4 and similar to 1 mya, respectively. Sequence and expression analyses show that SRGAP2C is the most likely duplicate to encode a functional protein and is among the most fixed human-specific duplicate genes. Our data suggest a mechanism where incomplete duplication created a novel gene function-antagonizing parental SRGAP2 function-immediately "at birth'' 2-3 mya, which is a time corresponding to the transition from Australopithecus to Homo and the beginning of neocortex expansion.

引用

页码：912 / 922

页数：11

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