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Science 29 May 1998:
Vol. 280. no. 5368, pp. 1444 - 1447
DOI: 10.1126/science.280.5368.1444
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Reports

Correction of Deafness in shaker-2 Mice by an Unconventional Myosin in a BAC Transgene

Frank J. Probst, Robert A. Fridell, Yehoash Raphael, Thomas L. Saunders, Aihui Wang, Yong Liang, Robert J. Morell, Jeffrey W. Touchman, Robert H. Lyons, Konrad Noben-Trauth, Thomas B. Friedman, Sally A. Camper *

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.

F. J. Probst, T. L. Saunders, S. A. Camper, Department of Human Genetics, 4701 MSRB III, University of Michigan, 1500 West Medical Center Drive, Ann Arbor, MI 48109, USA.
R. A. Fridell, R. J. Morell, K. Noben-Trauth, T. B. Friedman, National Institute on Deafness and Other Communication Disorders (NIDCD), National Institutes of Health, 5 Research Court, Rockville, MD 20850, USA.
A. Wang and Y. Liang, Graduate Program in Genetics, Michigan State University, East Lansing, MI 48824, USA, and NIDCD, 5 Research Court, Rockville, MD 20850, USA.
Y. Raphael, Kresge Hearing Research Institute, University of Michigan, Ann Arbor, MI 48109, USA.
J. W. Touchman, NIH Intramural Sequencing Center, 5 Research Court, Rockville, MD 20850, USA, and National Human Genome Research Institute, 49 Convent Drive, Room 2C36, Bethesda, MD 20892, USA.
R. H. Lyons, DNA Sequencing Core Facility, University of Michigan, Ann Arbor, MI 48109, USA.
*   To whom correspondence should be addressed. E-mail: scamper{at}umich.edu

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