Dissecting the autism-associated 16p11.2 locus identifies multiple drivers in neuroanatomical phenotypes and unveils a male-specific role for the major vault protein.
Fiche publication
Date publication
novembre 2023
Journal
Genome biology
Auteurs
Membres identifiés du Cancéropôle Est :
Dr HERAULT Yann
Tous les auteurs :
Kretz PF, Wagner C, Mikhaleva A, Montillot C, Hugel S, Morella I, Kannan M, Fischer MC, Milhau M, Yalcin I, Brambilla R, Selloum M, Herault Y, Reymond A, Collins SC, Yalcin B
Lien Pubmed
Résumé
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.
Mots clés
Autism spectrum disorders, Brain anatomy, Major vault protein, Mouse genetic studies, Sex differences
Référence
Genome Biol. 2023 11 15;24(1):261