Genomes and Genes
Gene Symbol: Espn
Alias: espin, actin cytoskeletal regulatory protein, ectoplasmic specialization protein, jerker
- Genetics and ontogeny of aldehyde dehydrogenase isozymes in the mouse: localization of Ahd-1 encoding the mitochondrial isozyme on chromosome 4R S Holmes
Biochem Genet 16:1207-18. 1978..The genetic locus encoding AHD-A2 (suggested name Ahd-1) is localized on chromosome 4 and was mapped close to je (jerker) and Gpd-1 (encoding the liver and kidney isoenzyme of glucose-6-phosphate dehydrogenase)...
- Cochlear synaptic development and morphology in a genetically induced type of progressive hair cell degenerationB Sjostrom
Department of Otorhinolaryngology and Head and Neck Surgery, University Hospital, Umea, Sweden
ORL J Otorhinolaryngol Relat Spec 56:119-24. 1994..The jerker mouse belongs to the neuroepithelial type of mutants which in homozygotes results in early postnatal degeneration ..
- A gene affecting Wallerian nerve degeneration maps distally on mouse chromosome 4M F Lyon
Medical Research Council Radiobiology Unit, Didcot, Oxon, United Kingdom
Proc Natl Acad Sci U S A 90:9717-20. 1993..71 +/- 0.50 cM-(Eno-1, D4Mit33)-1.4 +/- 0.70 cM-D4Mit42-2.5 +/- 0.93 cM-D4Smh6b. The information on the position of the Wld locus should be valuable in further characterization of this gene involved in nerve degeneration and regeneration...
- A rat homolog of the mouse deafness mutant jerker (je)G E Truett
Pennington Biomedical Research Center, 6400 Perkins Road, Baton Rouge, Louisiana 70808 4124, USA
Mamm Genome 7:356-8. 1996..It seems likely that the mutation affects the rat homolog of je. The rat deafness locus should, therefore, be named jerker and assigned the gene symbol Je.
- A fusion pore phenotype in mast cells of the ruby-eye mouseA F Oberhauser
University of Chile, Santiago, Chile
Proc Natl Acad Sci U S A 93:14349-54. 1996..Furthermore, the identification of the gene causing the fusion pore phenotype reported here will illuminate the molecular mechanisms regulating exocytotic fusion...
- The deaf jerker mouse has a mutation in the gene encoding the espin actin-bundling proteins of hair cell stereocilia and lacks espinsL Zheng
Department of Cell and Molecular Biology and the Institute for Neuroscience, Northwestern University Medical School, Chicago, Illinois 60611, USA
Cell 102:377-85. 2000..that espins are also present in hair cell stereocilia and have uncovered a connection between the espin gene and jerker, a recessive mutation that causes hair cell degeneration, deafness, and vestibular dysfunction...
- Balanced levels of Espin are critical for stereociliary growth and length maintenanceAgnieszka Rzadzinska
Section on Structural Cell Biology, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland 20892 8027, USA
Cell Motil Cytoskeleton 62:157-65. 2005..the actin-bundling protein Espin in stereociliary growth by examining the hair cell stereocilia of Espin-deficient jerker mice (Espn(je)), and the effects of transiently overexpressing Espin in the neuroepithelial cells of the organ of ..
- Differential expression of espin isoforms during epithelial morphogenesis, stereociliogenesis and postnatal maturation in the developing inner earGabriella Sekerkova
Department of Cell and Molecular Biology, Feinberg School of Medicine, Northwestern University, 303 East Chicago Avenue, Chicago, IL 60611, USA
Dev Biol 291:83-95. 2006..Here, we demonstrate that the different espin isoforms are expressed in complex spatiotemporal patterns during inner ear development...
- Targeted wild-type and jerker espins reveal a novel, WH2-domain-dependent way to make actin bundles in cellsPatricia A Loomis
Department of Cell and Molecular Biology, Feinberg School of Medicine, and Institute for Neuroscience, Northwestern University, Chicago, IL 60611, USA
J Cell Sci 119:1655-65. 2006..This activity was observed for wild-type espins targeted to the centrosome in transfected neuronal cells and for jerker espins targeted to the nucleolus in a wide variety of transfected cells as a result of the frameshifted peptide ..
- Espins are multifunctional actin cytoskeletal regulatory proteins in the microvilli of chemosensory and mechanosensory cellsGabriella Sekerkova
Department of Cell and Molecular Biology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois 60611, USA
J Neurosci 24:5445-56. 2004..Moreover, we show that hair cells and these other sensory cells contain novel espin isoforms that arise from a different transcriptional start site and differ significantly from other espin isoforms ..
- Novel espin actin-bundling proteins are localized to Purkinje cell dendritic spines and bind the Src homology 3 adapter protein insulin receptor substrate p53Gabriela Sekerkova
Department of Cell and Molecular Biology, Feinberg School of Medicine and the Institute for Neuroscience, Northwestern University, Chicago, Illinois 60611, USA
J Neurosci 23:1310-9. 2003..These proteins are novel isoforms of the actin-bundling protein espin that arise through the use of a unique site for transcriptional initiation and differential splicing...
- Genetic and physical maps of jerker (Espn(je)) on mouse chromosome 4Torrance Jackson
Section on Neurogenetics, Laboratory of Molecular Biology, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 5 Research Court, 20850, Rockville, MD, USA
Biochem Biophys Res Commun 296:1143-7. 2002The jerker mutation causes degeneration of cochlea and vestibular sensory hair cells in mice...
- Targeting of the hair cell proteins cadherin 23, harmonin, myosin XVa, espin, and prestin in an epithelial cell modelLili Zheng
Department of Cell and Molecular Biology, Northwestern University Feinberg School of Medicine, Chicago, Illinois 60611, USA
J Neurosci 30:7187-201. 2010..We also examined two proteins involved in stereocilium elongation. The stereociliary actin-bundling protein espin was targeted to CL4 cell microvilli and caused microvillar elongation, whereas espin with the c.2469delGTCA or c...
- Espin contains an additional actin-binding site in its N terminus and is a major actin-bundling protein of the Sertoli cell-spermatid ectoplasmic specialization junctional plaqueB Chen
Department of Cell and Molecular Biology, Northwestern University Medical School, Chicago, Illinois 60611, USA
Mol Biol Cell 10:4327-39. 1999The espins are actin-binding and -bundling proteins localized to parallel actin bundles. The 837-amino-acid "espin" of Sertoli cell-spermatid junctions (ectoplasmic specializations) and the 253-amino-acid "small espin" of brush border ..
- Cochlear dysfunction in the jerker mouseK P Steel
Behav Neurosci 97:381-91. 1983Surface preparations show that the jerker (je/je) mutant mouse has a normal total number of cochlear hair cells when young but that these progressively degenerate with increasing age...
- Cochlear structure and function in a recessive type of genetically induced inner ear degenerationB Sjostrom
Department of Oto Rhino Laryngology, University Hospital, Umea, Sweden
ORL J Otorhinolaryngol Relat Spec 54:220-8. 1992..consecutive morphological analysis of the cochlea has been performed in homozygote (je/je) and heterozygote (je/+) jerker mouse mutants...
- Espin cross-links cause the elongation of microvillus-type parallel actin bundles in vivoPatricia A Loomis
Department of Cell and Molecular Biology, Feinberg School of Medicine, Institute of Neuroscience, Northwestern University, 303 East Chicago Ave, Chicago, IL 60611, USA
J Cell Biol 163:1045-55. 2003The espin actin-bundling proteins, which are the target of the jerker deafness mutation, caused a dramatic, concentration-dependent lengthening of LLC-PK1-CL4 cell microvilli and their parallel actin bundles...
- Genetically induced inner ear degeneration. A structural and functional studyB Sjostrom
Department of Otorhinolaryngology and Head and Neck Surgery, University of Umea, Sweden
Acta Otolaryngol Suppl 493:141-6. 1992The jerker mouse mutant has an autosomal recessive mutation, which in homozygotes results in early postnatal degeneration of the sensory epithelia in both the cochlea and vestibulum...
- Neurod1 suppresses hair cell differentiation in ear ganglia and regulates hair cell subtype development in the cochleaIsrat Jahan
Department of Biology, University of Iowa, Iowa City, Iowa, United States of America
PLoS ONE 5:e11661. 2010..Neurod1, regulated by both Neurog1 and Atoh1, could be the mediator of this cross-regulation...
- Myosin IIIB uses an actin-binding motif in its espin-1 cargo to reach the tips of actin protrusionsRaymond C Merritt
Laboratory of Cell Structure and Dynamics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892, USA
Curr Biol 22:320-5. 2012..Strikingly, when MYO3B is coexpressed with espin-1 (ESPN1), a MYO3A cargo protein endogenously expressed in stereocilia , MYO3B targets and carries ESPN1 to ..
- Class III myosins shape the auditory hair bundles by limiting microvilli and stereocilia growthAndrea Lelli
Unite de Genetique et Physiologie de l Audition, Institut Pasteur, 75724 Paris, Cedex 15, France Unité Mixte de Recherche UMRS1120, Institut National de la Sante et de la Recherche Medicale, 75015 Paris, France Sorbonne Universités, Université Pierre et Marie Curie UPMC Paris VI, Complexité Du Vivant, 75005 Paris, France
J Cell Biol 212:231-44. 2016..Myosin IIIa, defective in the late-onset deafness form DFNB30, has been proposed to transport espin-1 to the tips of stereocilia, thereby promoting their elongation...
- KATNAL1 regulation of sertoli cell microtubule dynamics is essential for spermiogenesis and male fertilityLee B Smith
MRC Centre for Reproductive Health, University of Edinburgh, The Queen s Medical Research Institute, Edinburgh, United Kingdom
PLoS Genet 8:e1002697. 2012..Such information will have resonance both for future treatment of male fertility and the development of non-hormonal male contraceptives...
- Roles of the espin actin-bundling proteins in the morphogenesis and stabilization of hair cell stereocilia revealed in CBA/CaJ congenic jerker miceGabriella Sekerkova
Department of Cell and Molecular Biology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, United States of America
PLoS Genet 7:e1002032. 2011..A congenic jerker mouse line was prepared by repeated backcrossing into the inbred CBA/CaJ strain, which is known for excellent ..
- An actin molecular treadmill and myosins maintain stereocilia functional architecture and self-renewalAgnieszka K Rzadzinska
Section on Structural Cell Biology, National Institute of Deafness and Other Communication Disorders, National Institutes of Health, Bldg 50 Rm 4249, 50 South Dr, Bethesda, MD 20892 8027, USA
J Cell Biol 164:887-97. 2004..Here, we used the same approach of transfecting hair cells with actin-green fluorescent protein (GFP) and espin-GFP to characterize the turnover process...
- Polycystin-1 is required for stereocilia structure but not for mechanotransduction in inner ear hair cellsKatherine A Steigelman
Department of Developmental Neurobiology, St Jude Children s Research Hospital, Memphis, Tennessee 38105, USA
J Neurosci 31:12241-50. 2011..These results not only demonstrate a novel role for PC-1 in the cochlea, but also suggest insight into the development of polycystic kidney disease...
- 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...
- Vestibular ganglion neurons survive hair cell defects in jerker, shaker, and Varitint-waddler mutants and downregulate calretinin expressionMario Cabraja
Department of Physiology, Charite, Universitatsmedizin Berlin, Campus Benjamin Franklin, D 14195 Berlin, Germany
J Comp Neurol 504:418-26. 2007..mutants purkinje cell degeneration (pcd/pcd), weaver (wv/wv), and Lurcher (Lc/+), and in the vestibular mutants jerker (je/je), shaker-1 (sh/sh), and Varitint-waddler (Va/+)...
- Cochlear developmental defect and background-dependent hearing thresholds in the Jackson circler (jc) mutant mouseAlfredo Calderon
Section on Neurogenetics, Laboratory of Molecular Biology, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 5 Research Court, Rockville, MD 20850, USA
Hear Res 221:44-58. 2006..Genome-wide linkage scans of backcross, intercross, and congenic progeny revealed a complex pattern of genetic and stochastic effects...
- A quantitative survey of gravity receptor function in mutant mouse strainsSherri M Jones
Department of Communication Sciences and Disorders, East Carolina University, Greenville, NC 27858, USA
J Assoc Res Otolaryngol 6:297-310. 2005..Homozygotes of the following recessive mutations had absent VsEPs at the ages tested: Espn(je), Atp2b2dfw-2J, Spnb4qv-lnd2J, Spnb4qv-3J, Myo7ash1, Tmie(sr), Myo6sv, jc, Pcdh15av-J, Pcdh15av-2J, Pcdh15av-3J, ..
- Initial characterization of kinocilin, a protein of the hair cell kinociliumMichel Leibovici
Unité de Génétique des Déficits Sensoriels, INSERM U587, Institut Pasteur, 25 rue du Dr Roux, 75724 Paris Cedex 15, France
Hear Res 203:144-53. 2005..The protein is also present in the manchette of the spermatids, a transient structure enriched in interconnected microtubules. We propose that kinocilin has a role in stabilizing dense microtubular networks or in vesicular trafficking...
- The retinoblastoma gene pathway regulates the postmitotic state of hair cells of the mouse inner earJohanna Mantela
Institute of Biotechnology, University of Helsinki, 00014 Helsinki, Finland
Development 132:2377-88. 2005..Our findings demonstrate that the pRb pathway is required for hair cell quiescence and that manipulation of the cell cycle machinery disrupts the coordinated development within the inner ear sensory epithelia...
- Genetic analyses of the mouse deafness mutations varitint-waddler (Va) and jerker (Espnje)Hung J Kim
Section on Neurogenetics, Laboratory of Molecular Biology, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA
J Assoc Res Otolaryngol 4:83-90. 2003..Here we report on our genetic analyses of the deaf mutants varitint-waddler (Va) and jerker (Espnje). A high-resolution genetic map localizes VaJ to a 0.14 +/- 0...
- 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...
- The murine Bis1 seizure gene and the Kcnab2 gene encoding the beta2-subunit of the K+ channel are differentP Zerr
Vollum Institute, Oregon Health Science University, Portland 97201, USA
Neurogenetics 2:231-4. 2000..DNA sequence analysis of the coding sequence for Kcnab2 from JE/Le mice revealed no structural alterations which might affect Kcnab2 function. However, several nucleotide changes were observed...
- Mouse chromosomes 4 and 13 are involved in beta-carboline-induced seizuresB Martin
Genetique, Neurogenetique et Comportement, URA 1294 CNRS, Paris, France
J Hered 86:274-9. 1995....
- Behavioural profiles of neurological mutant miceJ H van Abeelen
Genetica 37:149-58. 1966
- Isolation and mapping to 17p12-13 of the human homologous of the murine growth arrest specific Gas-3 geneA Martinotti
Division of Experimental Oncology D, Istituto Nazionale Tumori, Milano, Italy
Hum Mol Genet 1:331-4. 1992..We have now localized the human Gas-3 gene on chromosome 17p12-13. Its possible role in both the development of neoplasia in neurofibromatosis patients and in the myelin degenerative disease as the Charcot-Marie-Tooth is discussed...