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. 1998 May 29;280(5368):1444-7.
doi: 10.1126/science.280.5368.1444.

Correction of deafness in shaker-2 mice by an unconventional myosin in a BAC transgene

F J Probst  1 , R A Fridell, Y Raphael, T L Saunders, A Wang, Y Liang, R J Morell, J W Touchman, R H Lyons, K Noben-Trauth, T B Friedman, S A Camper
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Correction of deafness in shaker-2 mice by an unconventional myosin in a BAC transgene

F J Probst et al. Science. .

Abstract

The shaker-2 mouse mutation, the homolog of human DFNB3, causes deafness and circling behavior. A bacterial artificial chromosome (BAC) transgene from the shaker-2 critical region corrected the vestibular defects, deafness, and inner ear morphology of shaker-2 mice. An unconventional myosin gene, Myo15, was discovered by DNA sequencing of this BAC. Shaker-2 mice were found to have an amino acid substitution at a highly conserved position within the motor domain of this myosin. Auditory hair cells of shaker-2 mice have very short stereocilia and a long actin-containing protrusion extending from their basal end. This histopathology suggests that Myo15 is necessary for actin organization in the hair cells of the cochlea.

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  • More deafness genes.
    Steel KP, Brown SD. Steel KP, et al. Science. 1998 May 29;280(5368):1403. doi: 10.1126/science.280.5368.1403. Science. 1998. PMID: 9634418 No abstract available.

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