OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome

Copy-number variations (CNVs) are strong risk factors for neurodevelopmental and psychiatric disorders. The 15q13.3 microdeletion syndrome region contains up to ten genes and is associated with numerous conditions, including autism spectrum disorder (ASD), epilepsy, schizophrenia, and intellectual disability; however, the mechanisms underlying the pathogenesis of 15q13.3 microdeletion syndrome remain unknown. We combined whole-genome sequencing, human brain gene expression (proteome and transcriptome), and a mouse model with a syntenic heterozygous deletion (Df(h15q13)/+ mice) and determined that the microdeletion results in abnormal development of cortical dendritic spines and dendrite outgrowth.

Source: The American Journal of Human Genetics - February 1, 2018 Category: Genetics & Stem Cells Authors: Mohammed Uddin, Brianna K. Unda, Vickie Kwan, Nicholas T. Holzapfel, Sean H. White, Leon Chalil, Marc Woodbury-Smith, Karen S. Ho, Erin Harward, Nadeem Murtaza, Biren Dave, Giovanna Pellecchia, Lia D ’Abate, Thomas Nalpathamkalam, Sylvia Lamoureux, John Tags: Article Source Type: research