RGD Reference Report - Mutation analysis of the mouse myosin VIIA deafness gene. - Rat Genome Database

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Mutation analysis of the mouse myosin VIIA deafness gene.

Authors: Mburu, P  Liu, XZ  Walsh, J  Saw D, JR  Cope, MJ  Gibson, F  Kendrick-Jones, J  Steel, KP  Brown, SD 
Citation: Mburu P, etal., Genes Funct. 1997 Jun;1(3):191-203.
RGD ID: 4892285
Pubmed: PMID:9680294   (View Abstract at PubMed)

The shaker-1 (Myo7a) mouse deafness locus is encoded by an unconventional myosin gene: myosin VIIA [Gibson, Walsh, Mburu, Varela, Brown, Antonio, Biesel, Steel and Brown (1995) Nature (London) 374, 62-64]. The myosin VIIA gene is expressed in hair cells in the cochlea, where it is thought to function in the development of the critical neuroepithelium where auditory transduction takes place. In order to understand better the function of myosin VIIA, we have determined the complete sequence of the mouse myosin VIIA cDNA and employed the wild-type sequence for mutational analysis of a number of shaker-1 alleles. Analysis of the mouse myosin VIIA tail sequence demonstrates a large internal repeat with regions of similarity to myosins IV, X and XII as well as members of the band 4.1 family. In addition, the myosin VIIA repeats are similar along their entire length to a tail domain from a plant kinesin. The mouse myosin VIIA tail also contains a putative Src homology 3 (SH3) domain. Along with three previously reported shaker-1 mutations, mutations for seven shaker-1 alleles in total have now been identified. The mutational changes have been analysed in terms of their predicted effect on both myosin motor head and tail domain function and the predictions related to the known phenotypes of the shaker-1 alleles. Five of the mutations lie in the motor head, and analysis of their likely effect on myosin head structure correlates well with the known severity of the shaker-1 alleles. Of the two mutations in the tail, one is a missense mutation within the kinesin and myosin IV, X and XII homology domains that substitutes a conserved amino acid and leads to a severe deafness phenotype. This and other data suggest that myosin VIIA may have properties of a myosin-motor-kinesin-tail hybrid and be involved in membrane turnover within the actin-rich environment of the apical hair cell surface.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
MYO7AHumanDeafness  ISOMyo7a (Mus musculus)DNA:mutations:cds:multiple (mouse)RGD 
Myo7aRatDeafness  ISOMyo7a (Mus musculus)DNA:mutations:cds:multiple (mouse)RGD 
Myo7aMouseDeafness  IAGP DNA:mutations:cds:multiple (mouse)RGD 
MYO7AHumanvestibular disease  ISOMyo7a (Mus musculus)DNA:mutations:cds:multiple (mouse)RGD 
Myo7aRatvestibular disease  ISOMyo7a (Mus musculus)DNA:mutations:cds:multiple (mouse)RGD 
Myo7aMousevestibular disease  IAGP DNA:mutations:cds:multiple (mouse)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Myo7a  (myosin VIIA)

Genes (Mus musculus)
Myo7a  (myosin VIIA)

Genes (Homo sapiens)
MYO7A  (myosin VIIA)


Additional Information