Genomes and Genes
Gene Symbol: Whrn
Alias: 1110035G07Rik, AW122018, AW742671, C430046P22Rik, Dfnb31, whirler
- The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1Erwin Van Wijk
Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
Hum Mol Genet 15:751-65. 2006Mutations in the DFNB31 gene encoding the PDZ scaffold protein whirlin are causative for hearing loss in man and mouse...
- Usherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cellsAvital 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...
- Myosin XVa and whirlin, two deafness gene products required for hair bundle growth, are located at the stereocilia tips and interact directlyBenjamin 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...
- Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31Philomena Mburu
MRC Mammalian Genetics Unit and UK Mouse Genome Centre, Harwell, Oxon OX11 ORD, UK
Nat Genet 34:421-8. 2003The 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 ..
- Molecular characterization of the ankle-link complex in cochlear hair cells and its role in the hair bundle functioningNicolas 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...
- Whirlin complexes with p55 at the stereocilia tip during hair cell developmentPhilomena 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...
- Mutant analysis reveals whirlin as a dynamic organizer in the growing hair cell stereociliumYoshiaki 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 ..
- Elongation of hair cell stereocilia is defective in the mouse mutant whirlerRalph H Holme
MRC Institute of Hearing Research, University of Nottingham, Nottingham NG7 2RD, United Kingdom
J Comp Neurol 450:94-102. 2002The 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...
- Myosin-XVa is required for tip localization of whirlin and differential elongation of hair-cell stereociliaInna 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...
- Whirlin interacts with espin and modulates its actin-regulatory function: an insight into the mechanism of Usher syndrome type IILe 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 ..
- RpgrORF15 connects to the usher protein network through direct interactions with multiple whirlin isoformsRachel N Wright
Department of Veterinary Pathobiology, Texas A and M University, College Station, Texas, USA
Invest Ophthalmol Vis Sci 53:1519-29. 2012....
- WHIRLER MICE: A RECESSIVE BEHAVIOR MUTATION IN LINKAGE GROUP VIIIP W Lane
J Hered 54:263-6. 1963
- Mosaic complementation demonstrates a regulatory role for myosin VIIa in actin dynamics of stereociliaHaydn 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...
- An ENU-induced mutation of miR-96 associated with progressive hearing loss in miceMorag 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...
- The small GTPase Rac1 regulates auditory hair cell morphogenesisCynthia 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...
- Cochlear outer hair cells undergo an apical circumference remodeling constrained by the hair bundle shapeRaphaël 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...
- Ablation of whirlin long isoform disrupts the USH2 protein complex and causes vision and hearing lossJun 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...
- Whirlin replacement restores the formation of the USH2 protein complex in whirlin knockout photoreceptorsJunhuang 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...
- Regulation of stereocilia length by myosin XVa and whirlin depends on the actin-regulatory protein Eps8Uri 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...
- Metabolic and endocrine differences between the mutation whirler and normal female miceA M Sackler
J Exp Zool 164:133-40. 1967
- Whirler mutant hair cells have less severe pathology than shaker 2 or double mutantsMirna 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...
- MPP1 links the Usher protein network and the Crumbs protein complex in the retinaIlse 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...
- Vestibular dysfunction in the epistatic circler mouse is caused by phenotypic interaction of one recessive gene and three modifier genesKim 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...
- A deletion on chromosome 4 cosegregates with the whirler deafness mutation: exclusion of Orm1 as a candidateA J Paige
MRC Mammalian Genetics Unit and Mouse Genome Centre, Harwell, Didcot, Oxon OX11 0RD, UK
Mamm Genome 11:51-7. 2000b>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...
- Linkage analysis of the whirler deafness gene on mouse chromosome 4J Fleming
MRC Institute of Hearing Research, Nottingham, United Kingdom
Genomics 21:42-8. 1994The 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...
- Molecular genetics of the brown (b)-locus region of mouse chromosome 4. II. Complementation analyses of lethal brown deletionsE 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 ..
- The deaf mouse mutant whirler suggests a role for whirlin in actin filament dynamics and stereocilia developmentMette 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...
- Molecular genetics of the brown (b)-locus region of mouse chromosome 4. I. Origin and molecular mapping of radiation- and chemical-induced lethal brown deletionsE 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...
- Metabolism rate, biochemical and endocrine alterations in male whirler miceA S Weltman
Physiol Behav 5:17-22. 1970
- Genetic mapping of the whirler mutationM J Rogers
MRC Institute of Hearing Research, University Park, Nottingham, UK
Mamm Genome 10:513-9. 1999The 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)...