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. |