Literature DB >> 11398101

Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F.

Z M Ahmed1, S Riazuddin, S L Bernstein, Z Ahmed, S Khan, A J Griffith, R J Morell, T B Friedman, S Riazuddin, E R Wilcox.   

Abstract

Human chromosome 10q21-22 harbors USH1F in a region of conserved synteny to mouse chromosome 10. This region of mouse chromosome 10 contains Pcdh15, encoding a protocadherin gene that is mutated in ames waltzer and causes deafness and vestibular dysfunction. Here we report two mutations of protocadherin 15 (PCDH15) found in two families segregating Usher syndrome type 1F. A Northern blot probed with the PCDH15 cytoplasmic domain showed expression in the retina, consistent with its pathogenetic role in the retinitis pigmentosa associated with USH1F.

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Year:  2001        PMID： 11398101      PMCID： PMC1226045          DOI： 10.1086/321277

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  50 in total

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Journal:  Nucleic Acids Res       Date:  2000-01-01       Impact factor: 16.971

Review 2.  Phylogenetic analysis of the cadherin superfamily allows identification of six major subfamilies besides several solitary members.

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Journal:  J Mol Biol       Date:  2000-06-09       Impact factor: 5.469

3.  Mutations in the myosin VIIA gene cause a wide phenotypic spectrum, including atypical Usher syndrome.

Authors:  X Z Liu; C Hope; J Walsh; V Newton; X M Ke; C Y Liang; L R Xu; J M Zhou; D Trump; K P Steel; S Bundey; S D Brown
Journal:  Am J Hum Genet       Date:  1998-09       Impact factor: 11.025

4.  Ab initio gene finding in Drosophila genomic DNA.

Authors:  A A Salamov; V V Solovyev
Journal:  Genome Res       Date:  2000-04       Impact factor: 9.043

5.  Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D.

Authors:  F Di Palma; R H Holme; E C Bryda; I A Belyantseva; R Pellegrino; B Kachar; K P Steel; K Noben-Trauth
Journal:  Nat Genet       Date:  2001-01       Impact factor: 38.330

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

Authors:  K N Alagramam; C L Murcia; H Y Kwon; K S Pawlowski; C G Wright; R P Woychik
Journal:  Nat Genet       Date:  2001-01       Impact factor: 38.330

7.  A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene.

Authors:  M Bitner-Glindzicz; K J Lindley; P Rutland; D Blaydon; V V Smith; P J Milla; K Hussain; J Furth-Lavi; K E Cosgrove; R M Shepherd; P D Barnes; R E O'Brien; P A Farndon; J Sowden; X Z Liu; M J Scanlan; S Malcolm; M J Dunne; A Aynsley-Green; B Glaser
Journal:  Nat Genet       Date:  2000-09       Impact factor: 38.330

8.  A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C.

Authors:  E Verpy; M Leibovici; I Zwaenepoel; X Z Liu; A Gal; N Salem; A Mansour; S Blanchard; I Kobayashi; B J Keats; R Slim; C Petit
Journal:  Nat Genet       Date:  2000-09       Impact factor: 38.330

Review 9.  Modifier genes of hereditary hearing loss.

Authors:  T Friedman; J Battey; B Kachar; S Riazuddin; K Noben-Trauth; A Griffith; E Wilcox
Journal:  Curr Opin Neurobiol       Date:  2000-08       Impact factor: 6.627

10.  Genetic heterogeneity of Usher syndrome: analysis of 151 families with Usher type I.

Authors:  L M Astuto; M D Weston; C A Carney; D M Hoover; C W Cremers; M Wagenaar; C Moller; R J Smith; S Pieke-Dahl; J Greenberg; R Ramesar; S G Jacobson; C Ayuso; J R Heckenlively; M Tamayo; M B Gorin; W Reardon; W J Kimberling
Journal:  Am J Hum Genet       Date:  2000-11-01       Impact factor: 11.025
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  171 in total

Review 1.  Towards a molecular understanding of Drosophila hearing.

Authors:  Jason C Caldwell; Daniel F Eberl
Journal:  J Neurobiol       Date:  2002-11-05

2.  Development and regeneration of sensory transduction in auditory hair cells requires functional interaction between cadherin-23 and protocadherin-15.

Authors:  Andrea Lelli; Piotr Kazmierczak; Yoshiyuki Kawashima; Ulrich Müller; Jeffrey R Holt
Journal:  J Neurosci       Date:  2010-08-25       Impact factor: 6.167

3.  Gene expression associated with the onset of hearing detected by differential display in rat organ of Corti.

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Journal:  Eur J Hum Genet       Date:  2010-07-21       Impact factor: 4.246

Review 4.  Genetics and pathological mechanisms of Usher syndrome.

Authors:  Denise Yan; Xue Z Liu
Journal:  J Hum Genet       Date:  2010-04-09       Impact factor: 3.172

5.  Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa.

Authors:  Terri L McGee; Babak Jian Seyedahmadi; Meredith O Sweeney; Thaddeus P Dryja; Eliot L Berson
Journal:  J Med Genet       Date:  2010-05-27       Impact factor: 6.318

6.  Regulation of PCDH15 function in mechanosensory hair cells by alternative splicing of the cytoplasmic domain.

Authors:  Stuart W Webb; Nicolas Grillet; Leonardo R Andrade; Wei Xiong; Lani Swarthout; Charley C Della Santina; Bechara Kachar; Ulrich Müller
Journal:  Development       Date:  2011-04       Impact factor: 6.868

7.  Functional null mutations of MSRB3 encoding methionine sulfoxide reductase are associated with human deafness DFNB74.

Authors:  Zubair M Ahmed; Rizwan Yousaf; Byung Cheon Lee; Shaheen N Khan; Sue Lee; Kwanghyuk Lee; Tayyab Husnain; Atteeq Ur Rehman; Sarah Bonneux; Muhammad Ansar; Wasim Ahmad; Suzanne M Leal; Vadim N Gladyshev; Inna A Belyantseva; Guy Van Camp; Sheikh Riazuddin; Thomas B Friedman; Saima Riazuddin
Journal:  Am J Hum Genet       Date:  2010-12-23       Impact factor: 11.025

Review 8.  Genetic characterization and disease mechanism of retinitis pigmentosa; current scenario.

Authors:  Muhammad Umar Ali; Muhammad Saif Ur Rahman; Jiang Cao; Ping Xi Yuan
Journal:  3 Biotech       Date:  2017-07-18       Impact factor: 2.406

9.  Cyclic nucleotide-gated channel α-3 (CNGA3) interacts with stereocilia tip-link cadherin 23 + exon 68 or alternatively with myosin VIIa, two proteins required for hair cell mechanotransduction.

Authors:  Dakshnamurthy Selvakumar; Marian J Drescher; Dennis G Drescher
Journal:  J Biol Chem       Date:  2013-01-17       Impact factor: 5.157

Review 10.  Usher syndrome: Hearing loss, retinal degeneration and associated abnormalities.

Authors:  Pranav Mathur; Jun Yang
Journal:  Biochim Biophys Acta       Date:  2014-12-04
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