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Myosin VI deafness mutation prevents the initiation of processive runs on actin.
Pylypenko, Olena; Song, Lin; Shima, Ai; Yang, Zhaohui; Houdusse, Anne M; Sweeney, H Lee.
Afiliación
  • Pylypenko O; Structural Motility, Centre de Recherche, Institut Curie, Paris F-75248, France; CNRS, UMR 144, 75248 Paris Cedex 5, France; and.
  • Song L; Department of Physiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104.
  • Shima A; Department of Physiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104.
  • Yang Z; Department of Physiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104.
  • Houdusse AM; Structural Motility, Centre de Recherche, Institut Curie, Paris F-75248, France; CNRS, UMR 144, 75248 Paris Cedex 5, France; and anne.houdusse@curie.fr Lsweeney@mail.med.upenn.edu.
  • Sweeney HL; Department of Physiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104 anne.houdusse@curie.fr Lsweeney@mail.med.upenn.edu.
Proc Natl Acad Sci U S A ; 112(11): E1201-9, 2015 Mar 17.
Article en En | MEDLINE | ID: mdl-25751888
Mutations in the reverse-direction myosin, myosin VI, are associated with deafness in humans and mice. A myosin VI deafness mutation, D179Y, which is in the transducer of the motor, uncoupled the release of the ATP hydrolysis product, inorganic phosphate (Pi), from dependency on actin binding and destroyed the ability of single dimeric molecules to move processively on actin filaments. We observed that processive movement is rescued if ATP is added to the mutant dimer following binding of both heads to actin in the absence of ATP, demonstrating that the mutation selectively destroys the initiation of processive runs at physiological ATP levels. A drug (omecamtiv) that accelerates the actin-activated activity of cardiac myosin was able to rescue processivity of the D179Y mutant dimers at physiological ATP concentrations by slowing the actin-independent release of Pi. Thus, it may be possible to create myosin VI-specific drugs that rescue the function of deafness-causing mutations.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Actinas / Cadenas Pesadas de Miosina / Sordera / Mutación Límite: Animals / Humans Idioma: En Revista: Proc Natl Acad Sci U S A Año: 2015 Tipo del documento: Article Pais de publicación: Estados Unidos

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Actinas / Cadenas Pesadas de Miosina / Sordera / Mutación Límite: Animals / Humans Idioma: En Revista: Proc Natl Acad Sci U S A Año: 2015 Tipo del documento: Article Pais de publicación: Estados Unidos