Whrn

Summary

Gene Symbol: Whrn
Description: whirlin
Alias: 1110035G07Rik, AW122018, AW742671, C430046P22Rik, Dfnb31, whirler
Species: mouse

Top Publications

  1. ncbi The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1
    Erwin Van Wijk
    Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Hum Mol Genet 15:751-65. 2006
  2. ncbi 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
    Avital Adato
    Unité de Génétique des Déficits Sensoriels, INSERM U587, Institut Pasteur, Paris, France
    Hum Mol Genet 14:3921-32. 2005
  3. ncbi Myosin XVa and whirlin, two deafness gene products required for hair bundle growth, are located at the stereocilia tips and interact directly
    Benjamin Delprat
    Unité de Génétique des Déficits Sensoriels, INSERM U587, Institut Pasteur, 25 rue du Dr Roux, 75724 Paris, Cedex 15, France
    Hum Mol Genet 14:401-10. 2005
  4. ncbi Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31
    Philomena Mburu
    MRC Mammalian Genetics Unit and UK Mouse Genome Centre, Harwell, Oxon OX11 ORD, UK
    Nat Genet 34:421-8. 2003
  5. ncbi Molecular characterization of the ankle-link complex in cochlear hair cells and its role in the hair bundle functioning
    Nicolas Michalski
    Institut National de la Santé et de la Recherche Médicale Unité Mixte de Recherche en Santé 587, College de France, Institut Pasteur, 75724 Paris Cedex 15, France
    J Neurosci 27:6478-88. 2007
  6. pmc Whirlin complexes with p55 at the stereocilia tip during hair cell development
    Philomena Mburu
    Medical Research Council Mammalian Genetics Unit, Harwell OX11 ORD, United Kingdom
    Proc Natl Acad Sci U S A 103:10973-8. 2006
  7. ncbi Mutant analysis reveals whirlin as a dynamic organizer in the growing hair cell stereocilium
    Yoshiaki Kikkawa
    MRC Mammalian Genetics Unit, Harwell OX11 ORD, UK
    Hum Mol Genet 14:391-400. 2005
  8. ncbi Elongation of hair cell stereocilia is defective in the mouse mutant whirler
    Ralph H Holme
    MRC Institute of Hearing Research, University of Nottingham, Nottingham NG7 2RD, United Kingdom
    J Comp Neurol 450:94-102. 2002
  9. ncbi Myosin-XVa is required for tip localization of whirlin and differential elongation of hair-cell stereocilia
    Inna A Belyantseva
    Section on Human Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA
    Nat Cell Biol 7:148-56. 2005
  10. pmc Whirlin interacts with espin and modulates its actin-regulatory function: an insight into the mechanism of Usher syndrome type II
    Le Wang
    Department of Ophthalmology and Visual Sciences, Moran Eye Center, University of Utah, Salt Lake City, UT 84132, USA
    Hum Mol Genet 21:692-710. 2012

Scientific Experts

  • Mette M Mogensen
  • Haydn M Prosser
  • Jun Yang
  • Christine Petit
  • Philomena Mburu
  • Vincent Michel
  • Dominique Weil
  • Nicolas Michalski
  • Junhuang Zou
  • Steve D M Brown
  • Jean Pierre Hardelin
  • Erwin Van Wijk
  • Mirna Mustapha
  • Yoshiaki Kikkawa
  • Benjamin Delprat
  • Rachel N Wright
  • Le Wang
  • Karen P Steel
  • Zuolian Shen
  • Aziz El-Amraoui
  • Uri Manor
  • Raphaël Etournay
  • Morag A Lewis
  • Cynthia M Grimsley-Myers
  • Ralph H Holme
  • Ilse Gosens
  • Uwe Wolfrum
  • Hannie Kremer
  • Ferry F J Kersten
  • Frans P M Cremers
  • Bert van der Zwaag
  • Tina Märker
  • Theo Peters
  • Ronald Roepman
  • Sébastien Chardenoux
  • M J Rogers
  • Gaelle Lefevre
  • Stuart Townsend
  • Avital Adato
  • Inna A Belyantseva
  • Isabelle Perfettini
  • Kim Cryns
  • K P Steel
  • S D Brown
  • E Song
  • Brian Perkins
  • Dong Hyun Hong
  • Vince A Chiodo
  • M Hamed Grati
  • Andrea Disanza
  • Leonardo Andrade
  • Pier Paolo Di Fiore
  • William W Hauswirth
  • Giorgio Scita
  • Harrison Lin
  • Ling Luo
  • Bechara Kachar
  • Balamurali K Ambati
  • Xun Sun
  • M Charles Liberman
  • D Randy McMillan
  • Basil Pawlyk
  • Michael Adamian
  • Michel Leibovici
  • Yun Zhao
  • Léa Lepelletier
  • A J Paige
  • Nadège Cayet
  • Isabelle Foucher
  • Tiansen Li
  • Jacques Boutet de Monvel
  • Xiaoqing Liu
  • Anton J Enright
  • A Varela
  • B W Kiernan
  • Xiaowei Lu
  • Anne M Glazier
  • Conor W Sipe
  • Cei Abreu-Goodger
  • Stijn van Dongen
  • Helmut Fuchs
  • Nick Redshaw
  • Matias Piipari
  • Martin Hrabe de Angelis
  • Gwenaëlle S G Géléoc
  • Elizabeth Quint
  • Cordelia Langford
  • Tamas Dalmay
  • Miguel Angel Moreno-Pelayo
  • Masahiko Izumikawa

Detail Information

Publications31

  1. ncbi The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1
    Erwin Van Wijk
    Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Hum Mol Genet 15:751-65. 2006
    Mutations in the DFNB31 gene encoding the PDZ scaffold protein whirlin are causative for hearing loss in man and mouse...
  2. ncbi 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
    Avital Adato
    Unité de Génétique des Déficits Sensoriels, INSERM U587, Institut Pasteur, Paris, France
    Hum Mol Genet 14:3921-32. 2005
    ..e. the disruption of hair bundle links-mediated adhesion forces that are essential for the proper organization of growing hair bundles...
  3. ncbi Myosin XVa and whirlin, two deafness gene products required for hair bundle growth, are located at the stereocilia tips and interact directly
    Benjamin Delprat
    Unité de Génétique des Déficits Sensoriels, INSERM U587, Institut Pasteur, 25 rue du Dr Roux, 75724 Paris, Cedex 15, France
    Hum Mol Genet 14:401-10. 2005
    ..The interaction between whirlin and NGL-1 might be involved in the stabilization of interstereociliar links...
  4. ncbi Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31
    Philomena Mburu
    MRC Mammalian Genetics Unit and UK Mouse Genome Centre, Harwell, Oxon OX11 ORD, UK
    Nat Genet 34:421-8. 2003
    The whirler mouse mutant (wi) does not respond to sound stimuli, and detailed ultrastructural analysis of sensory hair cells in the organ of Corti of the inner ear indicates that the whirler gene encodes a protein involved in the ..
  5. ncbi Molecular characterization of the ankle-link complex in cochlear hair cells and its role in the hair bundle functioning
    Nicolas Michalski
    Institut National de la Santé et de la Recherche Médicale Unité Mixte de Recherche en Santé 587, College de France, Institut Pasteur, 75724 Paris Cedex 15, France
    J Neurosci 27:6478-88. 2007
    ..The premature disappearance of these cadherin isoforms in the Vlgr1-/- mutant argues in favor of a signaling function of the ankle links in hair bundle differentiation...
  6. pmc Whirlin complexes with p55 at the stereocilia tip during hair cell development
    Philomena Mburu
    Medical Research Council Mammalian Genetics Unit, Harwell OX11 ORD, United Kingdom
    Proc Natl Acad Sci U S A 103:10973-8. 2006
    ..1R is also expressed in stereocilia structures with an identical pattern to p55. Mutations in the whirlin gene (whirler) and in the myosin XVa gene (shaker2) affect stereocilia development and lead to early ablation of p55 and 4...
  7. ncbi Mutant analysis reveals whirlin as a dynamic organizer in the growing hair cell stereocilium
    Yoshiaki Kikkawa
    MRC Mammalian Genetics Unit, Harwell OX11 ORD, UK
    Hum Mol Genet 14:391-400. 2005
    ..The PDZ protein whirlin is known, by virtue of the whirler mutation, to be involved in the process of stereocilia elongation and actin polymerization in the sensory hair ..
  8. ncbi Elongation of hair cell stereocilia is defective in the mouse mutant whirler
    Ralph H Holme
    MRC Institute of Hearing Research, University of Nottingham, Nottingham NG7 2RD, United Kingdom
    J Comp Neurol 450:94-102. 2002
    The recessive mouse mutant whirler (wi) shows no response to sound and exhibits circling and head-tossing behaviour, indicative of both auditory and vestibular dysfunction. The wi mutation maps genetically to mouse chromosome 4...
  9. ncbi Myosin-XVa is required for tip localization of whirlin and differential elongation of hair-cell stereocilia
    Inna A Belyantseva
    Section on Human Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA
    Nat Cell Biol 7:148-56. 2005
    ..short stereocilia bundles that have a diminished staircase are characteristic of the shaker 2 (Myo15a(sh2)) and whirler (Whrn(wi)) strains of deaf mice...
  10. pmc Whirlin interacts with espin and modulates its actin-regulatory function: an insight into the mechanism of Usher syndrome type II
    Le Wang
    Department of Ophthalmology and Visual Sciences, Moran Eye Center, University of Utah, Salt Lake City, UT 84132, USA
    Hum Mol Genet 21:692-710. 2012
    ..mutations cause retinal degeneration and hearing loss in Usher syndrome type II (USH2) and non-syndromic deafness, DFNB31. Its protein recruits other USH2 causative proteins to form a complex at the periciliary membrane complex in ..
  11. pmc RpgrORF15 connects to the usher protein network through direct interactions with multiple whirlin isoforms
    Rachel N Wright
    Department of Veterinary Pathobiology, Texas A and M University, College Station, Texas, USA
    Invest Ophthalmol Vis Sci 53:1519-29. 2012
    ....
  12. ncbi WHIRLER MICE: A RECESSIVE BEHAVIOR MUTATION IN LINKAGE GROUP VIII
    P W Lane
    J Hered 54:263-6. 1963
  13. pmc Mosaic complementation demonstrates a regulatory role for myosin VIIa in actin dynamics of stereocilia
    Haydn M Prosser
    The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, United Kingdom
    Mol Cell Biol 28:1702-12. 2008
    ..Our results strongly suggest that myosin VIIa regulates the establishment of a setpoint for stereocilium heights, and this novel role may influence their normal staircase-like arrangement within a bundle...
  14. pmc An ENU-induced mutation of miR-96 associated with progressive hearing loss in mice
    Morag A Lewis
    Wellcome Trust Sanger Institute, Hinxton, UK
    Nat Genet 41:614-8. 2009
    ..This is the first microRNA found associated with deafness, and diminuendo represents a model for understanding and potentially moderating progressive hair cell degeneration in hearing loss more generally...
  15. pmc The small GTPase Rac1 regulates auditory hair cell morphogenesis
    Cynthia M Grimsley-Myers
    Department of Cell Biology, University of Virginia, Charlottesville, Virginia 22908, USA
    J Neurosci 29:15859-69. 2009
    ..Together, these results reveal a critical function of Rac1 in morphogenesis of the auditory sensory epithelium and stereociliary bundle...
  16. doi Cochlear outer hair cells undergo an apical circumference remodeling constrained by the hair bundle shape
    Raphaël Etournay
    Unite de Genetique et Physiologie de l Audition, INSERM UMRS587 Université Paris VI, Institut Pasteur, 25 rue du Dr Roux, Paris Cedex 15, France
    Development 137:1373-83. 2010
    ..We propose that this remodeling contributes to optimize the mechanical coupling between the basal and apical poles of mature OHCs...
  17. pmc Ablation of whirlin long isoform disrupts the USH2 protein complex and causes vision and hearing loss
    Jun Yang
    The Berman Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, United States of America
    PLoS Genet 6:e1000955. 2010
    ..e., disruption of the PMC. Third, whirlin mutations that ablate the N-terminal PDZ domains lead to Usher syndrome, but non-syndromic hearing loss will result if they are spared...
  18. pmc Whirlin replacement restores the formation of the USH2 protein complex in whirlin knockout photoreceptors
    Junhuang Zou
    Department of Ophthalmology and Visual Sciences, Moran Eye Center, University of Utah, Salt Lake City, Utah 84132, USA
    Invest Ophthalmol Vis Sci 52:2343-51. 2011
    ..In this study, the adeno-associated virus (AAV)-mediated whirlin replacement was evaluated as a treatment option...
  19. pmc Regulation of stereocilia length by myosin XVa and whirlin depends on the actin-regulatory protein Eps8
    Uri Manor
    Laboratory of Cell Structure and Dynamics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892, USA
    Curr Biol 21:167-72. 2011
    ..We conclude that MyoXVa, whirlin, and Eps8 are integral components of the stereocilia tip complex, where Eps8 is a central actin-regulatory element for elongation of the stereocilia actin core...
  20. ncbi Metabolic and endocrine differences between the mutation whirler and normal female mice
    A M Sackler
    J Exp Zool 164:133-40. 1967
  21. pmc Whirler mutant hair cells have less severe pathology than shaker 2 or double mutants
    Mirna Mustapha
    Department of Human Genetics, University of Michigan, 4909 Buhl Building, 1241 East Catherine Street, Ann Arbor, MI 48109 0618, USA
    J Assoc Res Otolaryngol 8:329-37. 2007
    ..b>Whirler (wi) mice have a similar phenotype caused by a deletion in the third PDZ domain of WHIRLIN...
  22. ncbi MPP1 links the Usher protein network and the Crumbs protein complex in the retina
    Ilse Gosens
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Hum Mol Genet 16:1993-2003. 2007
    ..These processes, essential in neural development and patterning of the retina, may be disrupted in eye disorders that are associated with defects in these protein networks...
  23. pmc Vestibular dysfunction in the epistatic circler mouse is caused by phenotypic interaction of one recessive gene and three modifier genes
    Kim Cryns
    Department of Medical Genetics, University of Antwerp, B 2610 Antwerp, Belgium
    Genome Res 12:613-7. 2002
    ..Genetic mapping made it possible to localize the Ecs-gene to chromosome 14 and the Ecl-genes to chromosome 3, 4, and 13. This study illustrates the feasibility of identifying genes for multifactorial traits in mice...
  24. ncbi A deletion on chromosome 4 cosegregates with the whirler deafness mutation: exclusion of Orm1 as a candidate
    A J Paige
    MRC Mammalian Genetics Unit and Mouse Genome Centre, Harwell, Didcot, Oxon OX11 0RD, UK
    Mamm Genome 11:51-7. 2000
    b>Whirler (wi) mice display profound deafness and a head-tossing and circling phenotype, showing an autosomal recessive mode of inheritance. The wi mutation has been shown to map close to the Orm gene cluster on mouse Chromosome (Chr) 4...
  25. ncbi Linkage analysis of the whirler deafness gene on mouse chromosome 4
    J Fleming
    MRC Institute of Hearing Research, Nottingham, United Kingdom
    Genomics 21:42-8. 1994
    The whirler mouse harbors an autosomal recessive mutation on mouse chromosome 4 that causes deafness and vestibular dysfunction in the adult that is manifested as head-bobbing and circling behavior...
  26. pmc Molecular genetics of the brown (b)-locus region of mouse chromosome 4. II. Complementation analyses of lethal brown deletions
    E M Rinchik
    Biology Division, Oak Ridge National Laboratory, Tennessee 37831 8077
    Genetics 137:855-65. 1994
    ..Specifically, the pseudodominance tests identified deletions that include the proximally mapping whirler (wi) and the distally mapping depilated (dep) genes, thereby bracketing these loci defined by visible ..
  27. pmc The deaf mouse mutant whirler suggests a role for whirlin in actin filament dynamics and stereocilia development
    Mette M Mogensen
    School of Biological Sciences, University of East Anglia, Norwich, United Kingdom
    Cell Motil Cytoskeleton 64:496-508. 2007
    ..Here we provide further characterisation of the stereocilia of the whirler mouse mutant...
  28. pmc Molecular genetics of the brown (b)-locus region of mouse chromosome 4. I. Origin and molecular mapping of radiation- and chemical-induced lethal brown deletions
    E M Rinchik
    Biology Division, Oak Ridge National Laboratory, Tennessee 37831 8077
    Genetics 137:845-54. 1994
    ..The resulting deletion map provides a framework on which to build future molecular-genetic and biological analyses of this region of mouse chromosome 4...
  29. ncbi Metabolism rate, biochemical and endocrine alterations in male whirler mice
    A S Weltman
    Physiol Behav 5:17-22. 1970
  30. ncbi Genetic mapping of the whirler mutation
    M J Rogers
    MRC Institute of Hearing Research, University Park, Nottingham, UK
    Mamm Genome 10:513-9. 1999
    The whirler (wi) mutation on mouse Chromosome (Chr) 4 results in an autosomal recessive neuroepithelial deafness and vestibular dysfunction exhibited as a characteristic shaker-waltzer behavior (deafness, circling, and head-bobbing)...