Evolutionarily Dynamic Alternative Splicing of GPR56 Regulates Regional Cerebral Cortical Patterning

被引：158

作者：

Bae, Byoung-Il ^{[1
,2
,3
,4
]}

Tietjen, Ian ^{[1
,2
,3
,4
]}

Atabay, Kutay D. ^{[1
,2
,3
,4
]}

Evrony, Gilad D. ^{[1
,2
,3
,4
]}

Johnson, Matthew B. ^{[1
,2
,3
,4
]}

Asare, Ebenezer ^{[1
,2
,3
,4
]}

Wang, Peter P. ^{[1
,2
,3
,4
]}

Murayama, Ayako Y. ^{[5
]}

Im, Kiho ^{[6
]}

Lisgo, Steven N. ^{[7
]}

Overman, Lynne ^{[7
]}

Sestan, Nenad ^{[8
,9
]}

Chang, Bernard S. ^{[10
]}

Barkovich, A. James ^{[6
,11
,12
,13
,14
]}

Grant, P. Ellen

Topcu, Meral ^{[15
]}

Politsky, Jeffrey ^{[16
]}

Okano, Hideyuki ^{[5
]}

Piao, Xianhua ^{[17
,18
]}

Walsh, Christopher A. ^{[1
,2
,3
,4
]}

机构：

[1] Harvard Univ, Sch Med, Manton Ctr Orphan Dis, Div Genet & Genom, Boston, MA 02115 USA

[2] Harvard Univ, Howard Hughes Med Inst, Boston Childrens Hosp, Sch Med,Broad Inst MIT & Harvard, Boston, MA 02115 USA

[3] Harvard Univ, Sch Med, Dept Pediat, Boston, MA 02115 USA

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

[5] Keio Univ, Sch Med, Dept Physiol, Tokyo 1608582, Japan

[6] Harvard Univ, Sch Med, Boston Childrens Hosp,Dept Radiol,Div Newborn Med, Ctr Fetal Neonatal Neuroimaging & Dev Sci, Boston, MA 02115 USA

[7] MRC Wellcome Trust Human Dev Biol Resource HDBR, Inst Med Genet, Int Ctr Life, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England

[8] Yale Univ, Sch Med, Dept Neurobiol, New Haven, CT 06520 USA

[9] Yale Univ, Sch Med, Kavli Inst Neurosci, New Haven, CT 06520 USA

[10] Beth Israel Deaconess Med Ctr, Comprehens Epilepsy Ctr, Boston, MA 02215 USA

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

[12] Univ Calif San Francisco, Dept Pediat, San Francisco, CA 94143 USA

[13] Univ Calif San Francisco, Dept Neurol, San Francisco, CA 94143 USA

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

[15] Hacettepe Univ, Fac Med, Dept Pediat, TR-06100 Ankara, Turkey

[16] Med Coll Georgia, Dept Neurol, Augusta, GA 30912 USA

[17] Boston Childrens Hosp, Div Newborn Med, Boston, MA 02115 USA

[18] Harvard Univ, Sch Med, Boston, MA 02115 USA

来源：

SCIENCE | 2014年 / 343卷 / 6172期

基金：

英国医学研究理事会; 英国惠康基金;

关键词：

COUPLED RECEPTOR 56; FRONTOPARIETAL POLYMICROGYRIA; NEOCORTEX; LAMINATION; BRAIN;

D O I：

10.1126/science.1244392

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 human neocortex has numerous specialized functional areas whose formation is poorly understood. Here, we describe a 15-base pair deletion mutation in a regulatory element of GPR56 that selectively disrupts human cortex surrounding the Sylvian fissure bilaterally including "Broca's area," the primary language area, by disrupting regional GPR56 expression and blocking RFX transcription factor binding. GPR56 encodes a heterotrimeric guanine nucleotide-binding protein (G protein)-coupled receptor required for normal cortical development and is expressed in cortical progenitor cells. GPR56 expression levels regulate progenitor proliferation. GPR56 splice forms are highly variable between mice and humans, and the regulatory element of gyrencephalic mammals directs restricted lateral cortical expression. Our data reveal a mechanism by which control of GPR56 expression pattern by multiple alternative promoters can influence stem cell proliferation, gyral patterning, and, potentially, neocortex evolution.

引用

页码：764 / 768

页数：5

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