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Publication : A novel type of myosin encoded by the mouse deafness gene shaker-2.

First Author  Wakabayashi Y Year  1998
Journal  Biochem Biophys Res Commun Volume  248
Issue  3 Pages  655-9
PubMed ID  9703981 Mgi Jnum  J:49063
Mgi Id  MGI:1276633 Doi  10.1006/bbrc.1998.8976
Citation  Wakabayashi Y, et al. (1998) A novel type of myosin encoded by the mouse deafness gene shaker-2. Biochem Biophys Res Commun 248(3):655-9
abstractText  The mouse recessive deafness mutation, shaker-2(sh-2), represents a plausible model for an autosomal recessive form of human non-syndromic genetic deafness, DFNB3. Here we report the use of a positional cloning approach to show that the gene mutated in sh-2 mice encodes a novel type of unconventional myosin, A G-to-A transition changing cysteine to tyrosine in the conserved actin binding domain is detected in sh-2 but absent in laboratory strains and wild mice belonging to different mouse subspecies and species. This suggests that the novel myosin gene is a strong candidate for DFNB3. (C) 1998 Academic Press.
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