Microcephalin, a gene regulating brain size, continues to evolve adaptively in humans

被引：288

作者：

Evans, PD

Gilbert, SL

Mekel-Bobrov, N

Vallender, EJ

Anderson, JR

Vaez-Azizi, LM

Tishkoff, SA

Hudson, RR

Lahn, BT

机构：

[1] Univ Chicago, Howard Hughes Med Inst, Dept Human Genet, Chicago, IL 60637 USA

[2] Univ Chicago, Comm Genet, Chicago, IL 60637 USA

[3] Univ Chicago, Dept Ecol & Evolut, Chicago, IL 60637 USA

[4] Univ Maryland, Dept Biol, College Pk, MD 20742 USA

来源：

SCIENCE | 2005年 / 309卷 / 5741期

关键词：

D O I：

10.1126/science.1113722

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

The gene Microcephalin (MCPH1) regulates brain size and has evolved under strong positive selection in the human evolutionary lineage. We show that one genetic variant of Microcephalin in modern humans, which arose 37,000 years ago, increased in frequency too rapidly to be compatible with neutral drift. This indicates that it has spread under strong positive selection, although the exact nature of the selection is unknown. The finding that an important brain gene has continued to evolve adaptively in anatomically modern humans suggests the ongoing evolutionary plasticity of the human brain. It also makes Microcephalin an attractive candidate locus for studying the genetics of human variation in brain-related phenotypes.

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页码：1717 / 1720

页数：4

相关论文

共 49 条

[1] Interrogating a high-density SNP map for signatures of natural selection [J].

Akey, JM ;

Zhang, G ;

Zhang, K ;

Jin, L ;

Shriver, MD .

GENOME RESEARCH, 2002, 12 (12) :1805-1814

[2] Signatures of natural selection in the human genome [J].

Bamshad, M ;

Wooding, SP .

NATURE REVIEWS GENETICS, 2003, 4 (02) :99-111A

[3] Genetic signatures of strong recent positive selection at the lactase gene [J].

Bersaglieri, T ;

Sabeti, PC ;

Patterson, N ;

Vanderploeg, T ;

Schaffner, SF ;

Drake, JA ;

Rhodes, M ;

Reich, DE ;

Hirschhorn, JN .

AMERICAN JOURNAL OF HUMAN GENETICS, 2004, 74 (06) :1111-1120

[4] A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size [J].

Bond, J ;

Roberts, E ;

Springell, K ;

Lizarraga, S ;

Scott, S ;

Higgins, J ;

Hampshire, DJ ;

Morrison, EE ;

Leal, GF ;

Silva, EO ;

Costa, SMR ;

Baralle, D ;

Raponi, M ;

Karbani, G ;

Rashid, Y ;

Jafri, H ;

Bennett, C ;

Corry, P ;

Walsh, CA ;

Woods, CG .

NATURE GENETICS, 2005, 37 (04) :353-355

[5] ASPM is a major determinant of cerebral cortical size [J].

Bond, J ;

Roberts, E ;

Mochida, GH ;

Hampshire, DJ ;

Scott, S ;

Askham, JM ;

Springell, K ;

Mahadevan, M ;

Crow, YJ ;

Markham, AF ;

Walsh, CA ;

Woods, CG .

NATURE GENETICS, 2002, 32 (02) :316-320

[6] Birth and adaptive evolution of a hominoid gene that supports high neurotransmitter flux [J].

Burki, F ;

Kaessmann, H .

NATURE GENETICS, 2004, 36 (10) :1061-1063

[7] Primary microcephaly: New approaches for an old disorder [J].

Dobyns, WB .

AMERICAN JOURNAL OF MEDICAL GENETICS, 2002, 112 (04) :315-317

[8] Accelerated evolution of nervous system genes in the origin of Homo sapiens [J].

Dorus, S ;

Vallender, EJ ;

Evans, PD ;

Anderson, JR ;

Gilbert, SL ;

Mahowald, M ;

Wyckoff, GJ ;

Malcom, CM ;

Lahn, BT .

CELL, 2004, 119 (07) :1027-1040

[9] Molecular evolution of FOXP2, a gene involved in speech and language [J].

Enard, W ;

Przeworski, M ;

Fisher, SE ;

Lai, CSL ;

Wiebe, V ;

Kitano, T ;

Monaco, AP ;

Pääbo, S .

NATURE, 2002, 418 (6900) :869-872

[10] Reconstructing the evolutionary history of microcephalin, a gene controlling human brain size [J].

Evans, PD ;

Anderson, JR ;

Vallender, EJ ;

Choi, SS ;

Lahn, BT .

HUMAN MOLECULAR GENETICS, 2004, 13 (11) :1139-1145

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