Skip Navigation


Human Molecular Genetics Advance Access originally published online on October 21, 2003
This Article
Right arrow Full Text Freely available
Right arrow FREE Full Text (PDF) Freely available
Right arrow All Versions of this Article:
12/24/3215    most recent
ddg358v1
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in ISI Web of Science
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrow Search for citing articles in:
ISI Web of Science (71)
Right arrowRequest Permissions
Google Scholar
Right arrow Articles by Ahmed, Z. M.
Right arrow Articles by Wilcox, E. R.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Ahmed, Z. M.
Right arrow Articles by Wilcox, E. R.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

Human Molecular Genetics, 2003, Vol. 12, No. 24 3215-3223
DOI: 10.1093/hmg/ddg358
© 2003 Oxford University Press

PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23

Zubair M. Ahmed1,4, Saima Riazuddin1, Jamil Ahmad4, Steve L. Bernstein5, Yan Guo5, Muhammad F. Sabar4, Paul Sieving6, Sheikh Riazuddin4, Andrew J. Griffith2,3, Thomas B. Friedman1, Inna A. Belyantseva1 and Edward R. Wilcox1,*

1Section on Human Genetics, 2Section on Gene Structure and Function, Laboratory of Molecular Genetics, and 3Hearing Section, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD, USA, 4National Center of Excellence in Molecular Biology, Punjab University, Lahore, Pakistan, 5Department of Ophthalmology, University of Maryland School of Medicine, Baltimore, MD, USA and 6National Eye Institute, National Institutes of Health, Bethesda, MD, USA

Received June 27, 2003; Accepted October 17, 2003

Recessive splice site and nonsense mutations of PCDH15, encoding protocadherin 15, are known to cause deafness and retinitis pigmentosa in Usher syndrome type 1F (USH1F). Here we report that non-syndromic recessive hearing loss (DFNB23) is caused by missense mutations of PCDH15. This suggests a genotype–phenotype correlation in which hypomorphic alleles cause non-syndromic hearing loss, while more severe mutations of this gene result in USH1F. We localized protocadherin 15 to inner ear hair cell stereocilia, and to retinal photoreceptors by immunocytochemistry. Our results further strengthen the importance of protocadherin 15 in the morphogenesis and cohesion of stereocilia bundles and retinal photoreceptor cell maintenance or function.

* To whom correspondence should be addressed at: 5 Research Court, 2A-19, Rockville, MD 20850, USA. Tel: +1 3014024162; Fax: +1 3014808019; Email: wilcoxe{at}nidcd.nih.gov

{dagger} PCDH15 isoform B reported in this manuscript has been deposited in NCBI GenBank and the accession number is AY388963.


Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?


This article has been cited by other articles:


Home page
 Genome ResHome page
J. M. Akey
Constructing genomic maps of positive selection in humans: Where do we go from here?
Genome Res., May 1, 2009; 19(5): 711 - 722.
[Abstract] [Full Text] [PDF]

Home page
 DevelopmentHome page
G. Lefevre, V. Michel, D. Weil, L. Lepelletier, E. Bizard, U. Wolfrum, J.-P. Hardelin, and C. Petit
A core cochlear phenotype in USH1 mouse mutants implicates fibrous links of the hair bundle in its cohesion, orientation and differential growth
Development, April 15, 2008; 135(8): 1427 - 1437.
[Abstract] [Full Text] [PDF]

Home page
 GENES CELLSHome page
H. Yagi, H. Tokano, M. Maeda, T. Takabayashi, T. Nagano, H. Kiyama, S. Fujieda, K. Kitamura, and M. Sato
Vlgr1 is required for proper stereocilia maturation of cochlear hair cells.
Genes Cells, February 1, 2007; 12(2): 235 - 250.
[Abstract] [Full Text] [PDF]

Home page
 J. Med. Genet.Home page
A-F Roux, V Faugere, S Le Guedard, N Pallares-Ruiz, A Vielle, S Chambert, S Marlin, C Hamel, B Gilbert, S Malcolm, et al.
Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%
J. Med. Genet., September 1, 2006; 43(9): 763 - 768.
[Abstract] [Full Text] [PDF]

Home page
 J. Med. Genet.Home page
M I Shabbir, Z M Ahmed, S Y Khan, S. Riazuddin, A M Waryah, S N Khan, R D Camps, M Ghosh, M Kabra, I A Belyantseva, et al.
Mutations of human TMHS cause recessively inherited non-syndromic hearing loss
J. Med. Genet., August 1, 2006; 43(8): 634 - 640.
[Abstract] [Full Text] [PDF]

Home page
 IOVSHome page
R. J. L. Haywood-Watson II, Z. M. Ahmed, S. Kjellstrom, R. A. Bush, Y. Takada, L. L. Hampton, J. F. Battey, P. A. Sieving, and T. B. Friedman
Ames waltzer deaf mice have reduced electroretinogram amplitudes and complex alternative splicing of pcdh15 transcripts.
Invest. Ophthalmol. Vis. Sci., July 1, 2006; 47(7): 3074 - 3084.
[Abstract] [Full Text] [PDF]

Home page
 J. Neurosci.Home page
Z. M. Ahmed, R. Goodyear, S. Riazuddin, A. Lagziel, P. K. Legan, M. Behra, S. M. Burgess, K. S. Lilley, E. R. Wilcox, S. Riazuddin, et al.
The tip-link antigen, a protein associated with the transduction complex of sensory hair cells, is protocadherin-15.
J. Neurosci., June 28, 2006; 26(26): 7022 - 7034.
[Abstract] [Full Text] [PDF]

Home page
 J. Cell Sci.Home page
K. Schlichting, M. Wilsch-Brauninger, F. Demontis, and C. Dahmann
Cadherin Cad99C is required for normal microvilli morphology in Drosophila follicle cells
J. Cell Sci., March 15, 2006; 119(6): 1184 - 1195.
[Abstract] [Full Text] [PDF]

Home page
 J. Neurosci.Home page
M. Senften, M. Schwander, P. Kazmierczak, C. Lillo, J.-B. Shin, T. Hasson, G. S. G. Geleoc, P. G. Gillespie, D. Williams, J. R. Holt, et al.
Physical and Functional Interaction between Protocadherin 15 and Myosin VIIa in Mechanosensory Hair Cells
J. Neurosci., February 15, 2006; 26(7): 2060 - 2071.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
A. Adato, G. Lefevre, B. Delprat, V. Michel, N. Michalski, S. Chardenoux, D. Weil, A. El-Amraoui, and C. Petit
Usherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cells
Hum. Mol. Genet., December 15, 2005; 14(24): 3921 - 3932.
[Abstract] [Full Text] [PDF]

Home page
 JCBHome page
C. D'Alterio, D. D.D. Tran, M. W.Y. A. Yeung, M. S.H. Hwang, M. A. Li, C. J. Arana, V. K. Mulligan, M. Kubesh, P. Sharma, M. Chase, et al.
Drosophila melanogaster Cad99C, the orthologue of human Usher cadherin PCDH15, regulates the length of microvilli
J. Cell Biol., November 7, 2005; 171(3): 549 - 558.
[Abstract] [Full Text] [PDF]

Home page
 J. Cell Sci.Home page
A. El-Amraoui and C. Petit
Usher I syndrome: unravelling the mechanisms that underlie the cohesion of the growing hair bundle in inner ear sensory cells
J. Cell Sci., October 15, 2005; 118(20): 4593 - 4603.
[Abstract] [Full Text] [PDF]

Home page
 Proc. Natl. Acad. Sci. USAHome page
C. M. Longo-Guess, L. H. Gagnon, S. A. Cook, J. Wu, Q. Y. Zheng, and K. R. Johnson
A missense mutation in the previously undescribed gene Tmhs underlies deafness in hurry-scurry (hscy) mice
PNAS, May 31, 2005; 102(22): 7894 - 7899.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
A. Adato, V. Michel, Y. Kikkawa, J. Reiners, K. N. Alagramam, D. Weil, H. Yonekawa, U. Wolfrum, A. El-Amraoui, and C. Petit
Interactions in the network of Usher syndrome type 1 proteins
Hum. Mol. Genet., February 1, 2005; 14(3): 347 - 356.
[Abstract] [Full Text] [PDF]

Home page
 DevelopmentHome page
C. Seiler, K. C. Finger-Baier, O. Rinner, Y. V. Makhankov, H. Schwarz, S. C. F. Neuhauss, and T. Nicolson
Duplicated genes with split functions: independent roles of protocadherin15 orthologues in zebrafish hearing and vision
Development, February 1, 2005; 132(3): 615 - 623.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
Q. Y. Zheng, D. Yan, X. M. Ouyang, L. L. Du, H. Yu, B. Chang, K. R. Johnson, and X. Z. Liu
Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans
Hum. Mol. Genet., January 1, 2005; 14(1): 103 - 111.
[Abstract] [Full Text] [PDF]

Home page
 J. Med. Genet.Home page
Q J Wang, C Y Lu, N Li, S Q Rao, Y B Shi, D Y Han, X Li, J Y Cao, L M Yu, Q Z Li, et al.
Y-linked inheritance of non-syndromic hearing impairment in a large Chinese family
J. Med. Genet., June 1, 2004; 41(6): e80 - e80.
[Full Text] [PDF]


Disclaimer: Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.