ARID1B-mediated disorders: Mutations and possible mechanisms
Joe CH Sim, Susan M White, Paul J Lockhart
INTRACTABLE & RARE DISEASES RESEARCH | INT RESEARCH & COOPERATION ASSOC BIO & SOCIO-SCIENCES ADVANCEMENT | Published : 2015
Mutations in the gene encoding AT-rich interactive domain-containing protein 1B (ARID1B) were recently associated with multiple syndromes characterized by developmental delay and intellectual disability, in addition to nonsyndromic intellectual disability. While the majority of ARID1B mutations identified to date are predicted to result in haploinsufficiency, the underlying pathogenic mechanisms have yet to be fully understood. ARID1B is a DNA-binding subunit of the Brahma-associated factor chromatin remodelling complexes, which play a key role in the regulation of gene activity. The function of remodelling complexes can be regulated by their subunit composition, and there is some evidence t..View full abstract
Awarded by NHMRC Career Development Fellowship
The authors wish to thank everyone at the Bruce Lefroy Centre for their assistance and to thank the Lefroy and Handbury families for their generous support. PJL is supported by an NHMRC Career Development Fellowship (APP1032364). This work was made possible through the Victorian State Government Operational Infrastructure Support and Australian Government NHMRC IRIISS.