Myosins and Hearing

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

doi:10.1007/978-3-030-38062-5_13

Myosins and Hearing

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

Physiology

Research output: Chapter in Book/Report/Conference proceeding › Chapter › peer-review

28 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 language	English
Title of host publication	Advances in Experimental Medicine and Biology
Pages	317-330
Number of pages	14
DOIs	https://doi.org/10.1007/978-3-030-38062-5_13
State	Published - 2020

Publication series

Name	Advances in Experimental Medicine and Biology
Volume	1239
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.

Funding

Acknowledgements This research was supported (in part) by the Intramural Research Program of the NIH, National Institute on Deafness and Other Communication Disorders to T.B.F and by R01DC014658, R01DC012564, and S10OD025130 grants to G.I.F. We thank Dr. MhamedGrati for his critique of this chapter.

Funders	Funder number
National Institutes of Health (NIH)
National Institute on Deafness and Other Communication Disorders	S10OD025130, R01DC012564, R01DC014658
National Institute on Deafness and Other Communication Disorders

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

Access to Document

10.1007/978-3-030-38062-5_13

Cite this

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title = "Myosins and Hearing",

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.",

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",

author = "Friedman, \{Thomas B.\} and Belyantseva, \{Inna A.\} and Frolenkov, \{Gregory I.\}",

note = "Publisher Copyright: {\textcopyright} 2020, This is a U.S. government work and not under copyright protection in the U.S.; foreign copyright protection may apply.",

year = "2020",

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AU - Friedman, Thomas B.

AU - Belyantseva, Inna A.

AU - Frolenkov, Gregory I.

PY - 2020

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N2 - 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.

AB - 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.

KW - Deafness

KW - Hair cells

KW - Harmonin

KW - Hearing

KW - Helio gene-gun

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KW - MYO6

KW - MYO7A

KW - Retinitis pigmentosa

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KW - Stereocilia

KW - Usher syndrome

KW - Whirler mouse

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ER -

Myosins and Hearing

Abstract

Publication series

Bibliographical note

Funding

Keywords

ASJC Scopus subject areas

Access to Document

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