Article
A mutation in the Srrm4 gene causes alternative splicing defects and deafness in the Bronx waltzer mouse.
PLoS genetics - 1 Jan 2012
Nakano Yoko, Jahan Israt, Bonde Gregory, Sun Xingshen, Hildebrand Michael S, Engelhardt John F, Smith Richard J H, Cornell Robert A, Fritzsch Bernd, Bánfi Botond
Abstract excerpt
Sensory hair cells are essential for hearing and balance. Their development from epithelial precursors has been extensively characterized with respect to transcriptional regulation, but not in terms of posttranscriptional influences. Here we report on the identification and functional characterization of an alternative-splicing regulator whose inactivation is responsible for defective hair-cell development,...
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