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Science 29 May 1998:
Vol. 280. no. 5368, pp. 1447 - 1451
DOI: 10.1126/science.280.5368.1447
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Reports

Association of Unconventional Myosin MYO15 Mutations with Human Nonsyndromic Deafness DFNB3

Aihui Wang, Yong Liang, Robert A. Fridell, Frank J. Probst, Edward R. Wilcox, Jeffrey W. Touchman, Cynthia C. Morton, Robert J. Morell, Konrad Noben-Trauth, Sally A. Camper, Thomas B. Friedman *

DFNB3, a locus for nonsyndromic sensorineural recessive deafness, maps to a 3-centimorgan interval on human chromosome 17p11.2, a region that shows conserved synteny with mouse shaker-2. A human unconventional myosin gene, MYO15, was identified by combining functional and positional cloning approaches in searching for shaker-2 and DFNB3. MYO15 has at least 50 exons spanning 36 kilobases. Sequence analyses of these exons in affected individuals from three unrelated DFNB3 families revealed two missense mutations and one nonsense mutation that cosegregated with congenital recessive deafness.

A. Wang and Y. Liang, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA, and Graduate Program in Genetics, Michigan State University, East Lansing, MI 48824, USA.
R. A. Fridell, E. R. Wilcox, K. Noben-Trauth, R. J. Morell, T. B. Friedman, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA.
F. J. Probst and S. A. Camper, Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109, USA.
J. W. Touchman, NIH Intramural Sequencing Center, National Institutes of Health, Rockville, MD 20850, USA; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
C. C. Morton, Departments of Pathology, Obstetrics, Gynecology and Reproductive Biology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA.
*   To whom correspondence should be addressed. E-mail: tfriedman{at}pop.nidcd.nih.gov

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