Article
Dissecting the autism-associated 16p11.2 locus identifies multiple drivers in neuroanatomical phenotypes and unveils a male-specific role for the major vault protein.
Genome biology - 15 Nov 2023
Kretz Perrine F, Wagner Christel, Mikhaleva Anna, Montillot Charlotte, Hugel Sylvain, Morella Ilaria, Kannan Meghna, Fischer Marie-Christine, Milhau Maxence, Yalcin Ipek, Brambilla Riccardo, Selloum Mohammed, Herault Yann, Reymond Alexandre, Collins Stephan C, Yalcin Binnaz
Abstract excerpt
BACKGROUND: Using mouse genetic studies and systematic assessments of brain neuroanatomical phenotypes, we set out to identify which of the 30 genes causes brain defects at the autism-associated 16p11.2 locus. RESULTS: We show that multiple genes mapping to this region interact to regulate brain anatomy, with female mice exhibiting far fewer brain neuroanatomical phenotypes. In male mice, among the 13 genes...
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