Myosins and Hearing

Thomas B. Friedman, Inna A. Belyantseva, Gregory I. Frolenkov

Research output: Chapter in Book/Report/Conference proceedingChapterpeer-review

23 Scopus citations

Abstract

Hearing loss is both genetically and clinically heterogeneous, and pathogenic variants of over a hundred different genes are associated with this common neurosensory disorder. A relatively large number of these “deafness genes” encode myosin super family members. The evidence that pathogenic variants of human MYO3A, MYO6, MYO7A, MYO15A, MYH14 and MYH9 are associated with deafness ranges from moderate to definitive. Additional evidence for the involvement of these six myosins for normal hearing also comes from animal models, usually mouse or zebra fish, where mutations of these genes cause hearing loss and from biochemical, physiological and cell biological studies of their roles in the inner ear. This chapter focuses on these six genes for which evidence of a causative role in deafness is substantial.

Original languageEnglish
Title of host publicationAdvances in Experimental Medicine and Biology
Pages317-330
Number of pages14
DOIs
StatePublished - 2020

Publication series

NameAdvances in Experimental Medicine and Biology
Volume1239
ISSN (Print)0065-2598
ISSN (Electronic)2214-8019

Bibliographical note

Publisher Copyright:
© 2020, This is a U.S. government work and not under copyright protection in the U.S.; foreign copyright protection may apply.

Keywords

  • Deafness
  • Hair cells
  • Harmonin
  • Hearing
  • Helio gene-gun
  • MYH14
  • MYH9
  • MYO15A
  • MYO3A
  • MYO6
  • MYO7A
  • Retinitis pigmentosa
  • Shaker 2 mouse
  • Stereocilia
  • Usher syndrome
  • Whirler mouse

ASJC Scopus subject areas

  • General Biochemistry, Genetics and Molecular Biology

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