Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis

被引：21

作者：

Collins, Stephan C. ^{[1
,2
,3
,4
,5
]}

Mikhaleva, Anna ^{[6
]}

Vrcelj, Katarina ^{[7
]}

Vancollie, Valerie E. ^{[8
]}

Wagner, Christel ^{[1
,2
,3
,4
]}

Demeure, Nestor ^{[1
,2
,3
,4
]}

Whitley, Helen ^{[1
,2
,3
,4
]}

Kannan, Meghna ^{[1
,2
,3
,4
]}

Balz, Rebecca ^{[6
]}

Anthony, Lauren F. E. ^{[8
]}

Edwards, Andrew ^{[9
,10
]}

Moine, Herve ^{[1
,2
,3
,4
]}

White, Jacqueline K. ^{[8
]}

Adams, David J. ^{[8
]}

Reymond, Alexandre ^{[6
]}

Lelliott, Christopher J. ^{[8
]}

Webber, Caleb ^{[7
,11
]}

Yalcin, Binnaz ^{[1
,2
,3
,4
,6
]}

机构：

[1] INSERM, F-67404 Illkirch Graffenstaden, France

[2] CNRS, UMR7104, F-67404 Illkirch Graffenstaden, France

[3] INSERM, U964, F-67404 Illkirch Graffenstaden, France

[4] Univ Strasbourg, F-67404 Illkirch Graffenstaden, France

[5] Univ Bourgogne Franche Comte, INSERM, UMR1231 GAD, F-21000 Dijon, France

[6] Univ Lausanne, Ctr Integrat Genom, CH-1015 Lausanne, Switzerland

[7] Univ Oxford, Dept Physiol Anat & Genet, Oxford OX1 3PT, England

[8] Wellcome Sanger Inst, Cambridge CB10 1SA, England

[9] NHS Ayrshire & Arran, Woodland View Hosp, Irvine KA12 8SS, Scotland

[10] Wellcome Ctr Human Genet, Oxford OX3 7BN, England

[11] Univ Cardiff, UK Dementia Res Inst, Cardiff CF24 2HQ, S Glam, Wales

来源：

NATURE COMMUNICATIONS | 2019年 / 10卷 / 1期

基金：

瑞士国家科学基金会;

关键词：

DE-NOVO MUTATIONS; GENOME-WIDE; MODEL; RESOURCE; DATABASE; PROTEIN; PROGENITORS; HETEROTOPIA; PREVALENCE; DISORDERS;

D O I：

10.1038/s41467-019-11431-2

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：

Brain morphogenesis is an important process contributing to higher-order cognition, however our knowledge about its biological basis is largely incomplete. Here we analyze 118 neuroanatomical parameters in 1,566 mutant mouse lines and identify 198 genes whose disruptions yield NeuroAnatomical Phenotypes (NAPs), mostly affecting structures implicated in brain connectivity. Groups of functionally similar NAP genes participate in pathways involving the cytoskeleton, the cell cycle and the synapse, display distinct fetal and postnatal brain expression dynamics and importantly, their disruption can yield convergent phenotypic patterns. 17% of human unique orthologues of mouse NAP genes are known loci for cognitive dysfunction. The remaining 83% constitute a vast pool of genes newly implicated in brain architecture, providing the largest study of mouse NAP genes and pathways. This offers a complementary resource to human genetic studies and predict that many more genes could be involved in mammalian brain morphogenesis.

引用

页数：12

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