Transcriptional consequences of MBD5 disruption in mouse brain and CRISPR-derived neurons.

ABSTRACT:

Background

MBD5, encoding the methyl-CpG-binding domain 5 protein, has been proposed as a necessary and sufficient driver of the 2q23.1 microdeletion syndrome. De novo missense and protein-truncating variants from exome sequencing studies have directly implicated MBD5 in the etiology of autism spectrum disorder (ASD) and related neurodevelopmental disorders (NDDs). However, little is known concerning the specific function(s) of MBD5.

Methods

To gain insight into the complex interactions associated with alteration of MBD5 in individuals with ASD and related NDDs, we explored the transcriptional landscape of MBD5 haploinsufficiency across multiple mouse brain regions of a heterozygous hypomorphic Mbd5^+/GT mouse model, and compared these results to CRISPR-mediated mu

SUBMITTER: Seabra CM 

PROVIDER: S-EPMC7275313 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature