The mouse Ames waltzer hearing-loss mutant is caused by mutation of Pcdh15, a novel protocadherin gene

Kumar N. Alagramam; Crystal L. Murcia; Heajoon Y. Kwon; Karen S. Pawlowski; Charles G. Wright; Richard P. Woychik

doi:10.1038/83837

The mouse Ames waltzer hearing-loss mutant is caused by mutation of Pcdh15, a novel protocadherin gene

Kumar N. Alagramam, Crystal L. Murcia, Heajoon Y. Kwon, Karen S. Pawlowski, Charles G. Wright, Richard P. Woychik

Research output: Contribution to journal › Article › peer-review

262 Scopus citations

Abstract

The neuroepithelia of the inner ear contain hair cells that function as mechanoreceptors to transduce sound and motion signals. Mutations affecting these neuroepithelia cause deafness and vestibular dysfuction in humans^1-3. Ames waltzer (av) is a recessive mutation found in mice that causes deafness and a balance disorder associated with the degeneration of inner ear neuroepithelia⁴. Here we report that the gene that harbours the av mutation encodes a novel protocadherin. Cochlear hair cells in the av mutants show abnormal stereocilia by 10 days after birth (P10). This is the first evidence for the requirement of a protocadherin for normal function of the mammalian inner ear.

Original language	English (US)
Pages (from-to)	99-102
Number of pages	4
Journal	Nature genetics
Volume	27
Issue number	1
DOIs	https://doi.org/10.1038/83837
State	Published - 2001

ASJC Scopus subject areas

Genetics

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title = "The mouse Ames waltzer hearing-loss mutant is caused by mutation of Pcdh15, a novel protocadherin gene",

abstract = "The neuroepithelia of the inner ear contain hair cells that function as mechanoreceptors to transduce sound and motion signals. Mutations affecting these neuroepithelia cause deafness and vestibular dysfuction in humans1-3. Ames waltzer (av) is a recessive mutation found in mice that causes deafness and a balance disorder associated with the degeneration of inner ear neuroepithelia4. Here we report that the gene that harbours the av mutation encodes a novel protocadherin. Cochlear hair cells in the av mutants show abnormal stereocilia by 10 days after birth (P10). This is the first evidence for the requirement of a protocadherin for normal function of the mammalian inner ear.",

author = "Alagramam, {Kumar N.} and Murcia, {Crystal L.} and Kwon, {Heajoon Y.} and Pawlowski, {Karen S.} and Wright, {Charles G.} and Woychik, {Richard P.}",

note = "Funding Information: We thank S. Bultman and T. Magnuson for critical reading of the manuscript, and H. Dakappagari for technical assistance. This research was supported by a grant from NIDCD grant 1RO1-DC03420 to R.P.W. and an NRSA fellowship to K.N.A. C.L.M. was supported by NIH training grant HD07104.",

year = "2001",

doi = "10.1038/83837",

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pages = "99--102",

journal = "Nature genetics",

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T1 - The mouse Ames waltzer hearing-loss mutant is caused by mutation of Pcdh15, a novel protocadherin gene

AU - Alagramam, Kumar N.

AU - Murcia, Crystal L.

AU - Kwon, Heajoon Y.

AU - Pawlowski, Karen S.

AU - Wright, Charles G.

AU - Woychik, Richard P.

N1 - Funding Information: We thank S. Bultman and T. Magnuson for critical reading of the manuscript, and H. Dakappagari for technical assistance. This research was supported by a grant from NIDCD grant 1RO1-DC03420 to R.P.W. and an NRSA fellowship to K.N.A. C.L.M. was supported by NIH training grant HD07104.

PY - 2001

Y1 - 2001

N2 - The neuroepithelia of the inner ear contain hair cells that function as mechanoreceptors to transduce sound and motion signals. Mutations affecting these neuroepithelia cause deafness and vestibular dysfuction in humans1-3. Ames waltzer (av) is a recessive mutation found in mice that causes deafness and a balance disorder associated with the degeneration of inner ear neuroepithelia4. Here we report that the gene that harbours the av mutation encodes a novel protocadherin. Cochlear hair cells in the av mutants show abnormal stereocilia by 10 days after birth (P10). This is the first evidence for the requirement of a protocadherin for normal function of the mammalian inner ear.

AB - The neuroepithelia of the inner ear contain hair cells that function as mechanoreceptors to transduce sound and motion signals. Mutations affecting these neuroepithelia cause deafness and vestibular dysfuction in humans1-3. Ames waltzer (av) is a recessive mutation found in mice that causes deafness and a balance disorder associated with the degeneration of inner ear neuroepithelia4. Here we report that the gene that harbours the av mutation encodes a novel protocadherin. Cochlear hair cells in the av mutants show abnormal stereocilia by 10 days after birth (P10). This is the first evidence for the requirement of a protocadherin for normal function of the mammalian inner ear.

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The mouse Ames waltzer hearing-loss mutant is caused by mutation of Pcdh15, a novel protocadherin gene

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