Article
Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression.
Human molecular genetics - 1 Jun 2012
Baradaran-Heravi Alireza, Cho Kyoung Sang, Tolhuis Bas, Sanyal Mrinmoy, Morozova Olena, Morimoto Marie, Elizondo Leah I, Bridgewater Darren, Lubieniecka Joanna, Beirnes Kimberly, Myung Clara, Leung Danny, Fam Hok Khim, Choi Kunho, Huang Yan, Dionis Kira Y, Zonana Jonathan, Keller Kory, Stenzel Peter, Mayfield Christy, Lücke Thomas, Bokenkamp Arend, Marra Marco A, van Lohuizen Maarten, Lewis David B, Shaw Chad, Boerkoel Cornelius F
Abstract excerpt
Biallelic mutations of the DNA annealing helicase SMARCAL1 (SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1) cause Schimke immuno-osseous dysplasia (SIOD, MIM 242900), an incompletely penetrant autosomal recessive disorder. Using human, Drosophila and mouse models, we show that the proteins encoded by SMARCAL1 orthologs localize to transcriptionally active chromatin...
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