A novel type of myosin encoded by the mouse deafness gene shaker-2.
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.
First Department of Biochemistry, Niigata University School of Medicine, Japan.
Y
Y
Wakabayashi
Y
Y
Takahashi
Y
Y
Kikkawa
H
H
Okano
Y
Y
Mishima
T
T
Ushiki
H
H
Yonekawa
R
R
Kominami
D000199:Actins / Q000378:metabolism; D000595:Amino Acid Sequence; D000818:Animals; D001665:Binding Sites; D002874:Chromosome Mapping; D016386:Chromosome Walking; D017124:Conserved Sequence; D003638:Deafness / Q000235:genetics*; D004195:Disease Models, Animal; D006801:Humans; D051379:Mice; D008969:Molecular Sequence Data; D009218:Myosins / Q000096:biosynthesis / Q000737:chemistry / Q000235:genetics*; D017354:Point Mutation; D051381:Rats; D011995:Recombination, Genetic; D016415:Sequence Alignment; D017386:Sequence Homology, Amino Acid
D000199:Actins; C485245:MYO15A protein, human; C114013:Myo15 protein, mouse; D009218:Myosins