Abstract
Despite genetic evidence implicating MBD5 as the only overlapping gene between various 2q23.1 microdeletions, the function of MBD5 and its causality to 2q23.1 microdeletion syndrome, a disorder characterized by developmental delay and autistic features, has yet to be determined. In this issue of EMBO Molecular Medicine, Camarena et al generate an Mbd5 gene-trap mouse model and show for the first time that mice with reduced MBD5 expression develop behavioral abnormalities with neuronal function deficits, mimicking symptoms in 2q23.1 microdeletion syndrome, thus supporting a causal role for MBD5 haploinsufficiency in the disorder.
Highlights
Despite genetic evidence implicating methyl-CpG-binding domain 5 (MBD5) as the only overlapping gene between various 2q23.1 microdeletions, the function of MBD5 and its causality to 2q23.1 microdeletion syndrome, a disorder characterized by developmental delay and autistic features, has yet to be determined
Alignment of the deletion regions revealed a single overlapping locus spanning the methyl-CpG-binding domain 5 (MBD5) gene. This finding, accompanied by decreased MBD5 mRNA expression in patient samples, suggested that MBD5 haploinsufficiency is responsible for the observed disease manifestations (Talkowski et al, 2011; Williams et al, 2010)
MBD5 is a member of the methyl-CpGbinding domain (MBD) family of proteins, which includes MBDs 1 to 6, MeCP2, SETDB1, SETDB2, BAZ2A, and BAZ2B (Klose & Bird, 2006)
Summary
Despite genetic evidence implicating MBD5 as the only overlapping gene between various 2q23.1 microdeletions, the function of MBD5 and its causality to 2q23.1 microdeletion syndrome, a disorder characterized by developmental delay and autistic features, has yet to be determined. Alignment of the deletion regions revealed a single overlapping locus spanning the methyl-CpG-binding domain 5 (MBD5) gene.
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