Dissecting the autism-associated 16p11.2 locus identifies multiple drivers in brain phenotypes and unveils a new role for the major vault protein
Perrine F. Kretz, Christel Wagner, Charlotte Montillot, Sylvain Hugel, Ilaria Morella, Meghna Kannan, Anna Mikhaleva, Marie‐Christine Fischer, Maxence Milhau, Riccardo Brambilla, Yann Hérault, Alexandre Reymond, Mohammed Selloum, Stephan C. Collins, Binnaz Yalcin
The paper identifies multiple genes at the 16p11.2 locus contributing to brain size and neuroanatomical phenotypes in mice, with MVP as a key driver, and shows its interaction with ERK in regulating brain morphology and behavior.
bioRxiv · Jan 23, 2022 · PreprintGenetics