a mutation in the srrm4 gene causes alternative splicing defects and deafness in the bronx waltzer mousesrrm4基因的突变会导致可变剪接缺陷和耳聋在布朗克斯我们鼠标.pdfVIP

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a mutation in the srrm4 gene causes alternative splicing defects and deafness in the bronx waltzer mousesrrm4基因的突变会导致可变剪接缺陷和耳聋在布朗克斯我们鼠标.pdf

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a mutation in the srrm4 gene causes alternative splicing defects and deafness in the bronx waltzer mousesrrm4基因的突变会导致可变剪接缺陷和耳聋在布朗克斯我们鼠标

A Mutation in the Srrm4 Gene Causes Alternative Splicing Defects and Deafness in the Bronx Waltzer Mouse 1,2 3 1 1 4 Yoko Nakano , Israt Jahan , Gregory Bonde , Xingshen Sun , Michael S. Hildebrand , 1 4 1 3 ´ 1,2,4,5 John F. Engelhardt , Richard J. H. Smith , Robert A. Cornell , Bernd Fritzsch , Botond Banfi * 1 Department of Anatomy and Cell Biology, Carver College of Medicine, University of Iowa, Iowa City, Iowa, United States of America, 2 Inflammation Program, Carver College of Medicine, University of Iowa, Iowa City, Iowa, United States of America, 3 Department of Biology, College of Liberal Arts and Sciences, University of Iowa, Iowa City, Iowa, United States of America, 4 Department of Otolaryngology–Head and Neck Surgery, Carver College of Medicine, University of Iowa, Iowa City, Iowa, United States of America, 5 Department of Internal Medicine, Carver College of Medicine, University of Iowa, Iowa City, Iowa, United States of America Abstract 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, deafness, and impaired balance in the spontaneous mutant Bronx waltzer (bv) mouse. We used positional cloning and transgenic rescue to locate the bv mutation to the splicing factor-encoding gene Ser/Arg repetitive