G protein-coupled receptor-dependent development of human frontal cortex

被引：418

作者：

Piao, XH

Hill, RS

Bodell, A

Chang, BS

Basel-Vanagaite, L

Straussberg, R

Dobyns, WB

Qasrawi, B

Winter, RM

Innes, AM

Voit, T

Ross, ME

Michaud, JL

Déscarle, JC

Barkovich, AJ

Walsh, CA ^{[1
]}

机构：

[1] Harvard Univ, Sch Med, Beth Israel Deaconess Med Ctr, Howard Hughes Med Inst, Boston, MA 02115 USA

[2] Harvard Univ, Sch Med, Dept Neurol, Boston, MA 02115 USA

[3] Harvard Univ, Sch Med, Childrens Hosp, Div Newborn Med,Dept Med, Boston, MA 02115 USA

[4] Rabin Med Ctr, Dept Med Genet, IL-49100 Petah Tiqwa, Israel

[5] Schneider Childrens Med Ctr, Dept Child Neurol, Neurogenet Clin, IL-49202 Petah Tiqwa, Israel

[6] Univ Chicago, Dept Human Genet, Chicago, IL 60637 USA

[7] Minist Social Affairs & Labor, Social Welf Inst, Kuwait 13006, Kuwait

[8] Inst Child Hlth, Clin Genet Unit, London WC1N 1EH, England

[9] Univ Calgary, Alberta Childrens Hosp, Dept Med Genet, Calgary, AB T2T 5C7, Canada

[10] Univ Essen Gesamthsch, Dept Pediat, D-45122 Essen, Germany

[11] Cornell Univ, Dept Neurol & Neurosci, New York, NY 10021 USA

[12] Hop St Justine, Div Med Genet, Montreal, PQ H3T 1C5, Canada

[13] Hop St Justine, Dept Med Imaging, Montreal, PQ H3T 1C5, Canada

[14] Univ Calif San Francisco, Dept Radiol, San Francisco, CA 94143 USA

来源：

SCIENCE | 2004年 / 303卷 / 5666期

关键词：

D O I：

10.1126/science.1092780

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 mammalian cerebral cortex is characterized by complex patterns of anatomical and functional areas that differ markedly between species, but the molecular basis for this functional subdivision is largely unknown. Here, we show that mutations in GPR56, which encodes an orphan G protein - coupled receptor (GPCR) with a large extracellular domain, cause a human brain cortical malformation called bilateral frontoparietal polymicrogyria (BFPP). BFPP is characterized by disorganized cortical lamination that is most severe in frontal cortex. Our data suggest that GPCR signaling plays an essential role in regional development of human cerebral cortex.

引用

页码：2033 / 2036

页数：4

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