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Biochem Biophys Res Commun. 1998 Jul 30;248(3):655-9.

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

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  • 1First Department of Biochemistry, Niigata University School of Medicine, Japan.

Abstract

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.

PMID:
9703981
[PubMed - indexed for MEDLINE]
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