Nat Commun.: auth.: group Reymond

 2019 Aug 1;10(1):3465. doi: 10.1038/s41467-019-11431-2.

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

Collins SC1,2,3,4,5Mikhaleva A6Vrcelj K7Vancollie VE8Wagner C1,2,3,4Demeure N1,2,3,4Whitley H1,2,3,4Kannan M1,2,3,4Balz R6Anthony LFE8Edwards A9,10Moine H1,2,3,4White JK8Adams DJ8Reymond A6Lelliott CJ8Webber C7,11Yalcin B12,13,14,15,16.


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.

PMID: 31371714