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Characterization of Unconventional Myo6, the Human Homologue of the Gene Responsible For Deafness in Snells Waltzer Mice

  1. Author:
    Avraham, K. B.
    Hasson, T.
    Sobe, T.
    Balsara, B.
    Testa, J. R.
    Skvorak, A. B.
    Morton, C. C.
    Copeland, N. G.
    Jenkins, N. A.

  2. Author Address

    Avraham KB TEL AVIV UNIV SACKLER SCH MED DEPT HUMAN GENET IL-69978 TEL AVIV ISRAEL YALE UNIV DEPT BIOL NEW HAVEN, CT 06511 USA YALE UNIV DEPT PATHOL NEW HAVEN, CT 06511 USA FOX CHASE CANC CTR DEPT MED ONCOL PHILADELPHIA, PA 19111 USA BRIGHAM & WOMENS HOSP DEPT PATHOL BOSTON, MA 02115 USA BRIGHAM & WOMENS HOSP DEPT OBSTET GYNECOL & REPROD BIOL BOSTON, MA 02115 USA HARVARD UNIV SCH MED BOSTON, MA 02115 USA NCI FREDERICK CANC RES & DEV CTR ABL BASIC RES PROGRAM MAMMALIAN GENET LAB FREDERICK, MD 21702 USA
    1. Year: 1997
  2. Journal: Human Molecular Genetics
    1. 6
    2. 8
    3. Pages: 1225-1231
  4. Type of Article: Article
  1. Abstract:

    Deafness is the most common form of sensory impairment in humans, Mutations in unconventional myosins have been found to cause deafness in humans and mice. The mouse recessive deafness mutation, Snell's waltzer, contains an intragenic deletion in an unconventional myosin, myosin VI (focus designation, Myo6). The requirement for Myo6 for proper hearing in mice makes this gene an excellent candidate for a human deafness disorder. Here we report the cloning and characterization of the human unconventional myosin VI (locus designation, MYO6) cDNA. The MYO6 gene maps to human chromosome 6q13. The isolation of the human gene makes it now possible to determine if mutations in MYO6 contribute to the pathogenesis of deafness in the human population. [References: 33]

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  2. DOI: 10.1093/hmg/6.8.1225
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