Genomes and Genes
Gene Symbol: Espn
Alias: espin, actin cytoskeletal regulatory protein, ectoplasmic specialization protein, jerker
- Holmes R. Genetics and ontogeny of aldehyde dehydrogenase isozymes in the mouse: localization of Ahd-1 encoding the mitochondrial isozyme on chromosome 4. Biochem Genet. 1978;16:1207-18 pubmed..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)...
- Sjostrom B. Cochlear synaptic development and morphology in a genetically induced type of progressive hair cell degeneration. ORL J Otorhinolaryngol Relat Spec. 1994;56:119-24 pubmed..The jerker mouse belongs to the neuroepithelial type of mutants which in homozygotes results in early postnatal degeneration ..
- Lyon M, Ogunkolade B, Brown M, Atherton D, Perry V. A gene affecting Wallerian nerve degeneration maps distally on mouse chromosome 4. Proc Natl Acad Sci U S A. 1993;90:9717-20 pubmed..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. ..
- Truett G, Walker J, Brock J. A rat homolog of the mouse deafness mutant jerker (je). Mamm Genome. 1996;7:356-8 pubmed..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.
- Oberhauser A, Fernandez J. A fusion pore phenotype in mast cells of the ruby-eye mouse. Proc Natl Acad Sci U S A. 1996;93:14349-54 pubmed..Furthermore, the identification of the gene causing the fusion pore phenotype reported here will illuminate the molecular mechanisms regulating exocytotic fusion. ..
- Loomis P, Kelly A, Zheng L, Changyaleket B, Sekerkova G, Mugnaini E, et al. Targeted wild-type and jerker espins reveal a novel, WH2-domain-dependent way to make actin bundles in cells. J Cell Sci. 2006;119:1655-65 pubmed..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 ..
- Zheng L, Sekerkova G, Vranich K, Tilney L, Mugnaini E, Bartles J. The deaf jerker mouse has a mutation in the gene encoding the espin actin-bundling proteins of hair cell stereocilia and lacks espins. Cell. 2000;102:377-85 pubmed..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...
- Steel K, Bock G. Cochlear dysfunction in the jerker mouse. Behav Neurosci. 1983;97:381-91 pubmedSurface 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...
- Kitajiri S, Sakamoto T, Belyantseva I, Goodyear R, Stepanyan R, Fujiwara I, et al. Actin-bundling protein TRIOBP forms resilient rootlets of hair cell stereocilia essential for hearing. Cell. 2010;141:786-98 pubmed publisher..organizes actin filaments into uniquely dense bundles reminiscent of rootlets but distinct from bundles formed by espin, an actin crosslinker in stereocilia...
- Sekerkova G, Zheng L, Mugnaini E, Bartles J. Differential expression of espin isoforms during epithelial morphogenesis, stereociliogenesis and postnatal maturation in the developing inner ear. Dev Biol. 2006;291:83-95 pubmed..Here, we demonstrate that the different espin isoforms are expressed in complex spatiotemporal patterns during inner ear development...
- Sekerkova G, Zheng L, Loomis P, Changyaleket B, Whitlon D, Mugnaini E, et al. Espins are multifunctional actin cytoskeletal regulatory proteins in the microvilli of chemosensory and mechanosensory cells. J Neurosci. 2004;24:5445-56 pubmed..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 ..
- Loomis P, Zheng L, Sekerkova G, Changyaleket B, Mugnaini E, Bartles J. Espin cross-links cause the elongation of microvillus-type parallel actin bundles in vivo. J Cell Biol. 2003;163:1045-55 pubmedThe 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...
- Chen B, Li A, Wang D, Wang M, Zheng L, Bartles J. 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 plaque. Mol Biol Cell. 1999;10:4327-39 pubmedThe 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"..
- Sjostrom B, Anniko M. Cochlear structure and function in a recessive type of genetically induced inner ear degeneration. ORL J Otorhinolaryngol Relat Spec. 1992;54:220-8 pubmed..consecutive morphological analysis of the cochlea has been performed in homozygote (je/je) and heterozygote (je/+) jerker mouse mutants...
- Zheng L, Zheng J, Whitlon D, Garcia Anoveros J, Bartles J. Targeting of the hair cell proteins cadherin 23, harmonin, myosin XVa, espin, and prestin in an epithelial cell model. J Neurosci. 2010;30:7187-201 pubmed publisher..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...
- Jackson T, Thomas J, Green E, Noben Trauth K. Genetic and physical maps of jerker (Espn(je)) on mouse chromosome 4. Biochem Biophys Res Commun. 2002;296:1143-7 pubmedThe jerker mutation causes degeneration of cochlea and vestibular sensory hair cells in mice...
- GRUNEBERG H, Burnett J, Snell G. The Origin of Jerker, a New Gene Mutation of the House Mouse, and Linkage Studies Made with It. Proc Natl Acad Sci U S A. 1941;27:562-5 pubmed
- Rzadzinska A, Schneider M, Noben Trauth K, Bartles J, Kachar B. Balanced levels of Espin are critical for stereociliary growth and length maintenance. Cell Motil Cytoskeleton. 2005;62:157-65 pubmed..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 ..
- Sekerkova G, Loomis P, Changyaleket B, Zheng L, Eytan R, Chen B, et al. Novel espin actin-bundling proteins are localized to Purkinje cell dendritic spines and bind the Src homology 3 adapter protein insulin receptor substrate p53. J Neurosci. 2003;23:1310-9 pubmed..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...
- Sjostrom B, Anniko M. Genetically induced inner ear degeneration. A structural and functional study. Acta Otolaryngol Suppl. 1992;493:141-6 pubmedThe 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...
- Rzadzinska A, Schneider M, Davies C, Riordan G, Kachar B. An actin molecular treadmill and myosins maintain stereocilia functional architecture and self-renewal. J Cell Biol. 2004;164:887-97 pubmed..Here, we used the same approach of transfecting hair cells with actin-green fluorescent protein (GFP) and espin-GFP to characterize the turnover process...
- Ebrahim S, Avenarius M, Grati M, Krey J, Windsor A, Sousa A, et al. Stereocilia-staircase spacing is influenced by myosin III motors and their cargos espin-1 and espin-like. Nat Commun. 2016;7:10833 pubmed publisher..We show that eliminating espin-1 (ESPN-1), an isoform of ESPN and a myosin-III cargo, dramatically alters the slope of the stereocilia staircase ..
- Merritt R, Manor U, Salles F, Grati M, Dose A, Unrath W, et al. Myosin IIIB uses an actin-binding motif in its espin-1 cargo to reach the tips of actin protrusions. Curr Biol. 2012;22:320-5 pubmed publisher..Strikingly, when MYO3B is coexpressed with espin-1 (ESPN1), a MYO3A cargo protein endogenously expressed in stereocilia , MYO3B targets and carries ESPN1 to ..
- Grimsley Myers C, Sipe C, Géléoc G, Lu X. The small GTPase Rac1 regulates auditory hair cell morphogenesis. J Neurosci. 2009;29:15859-69 pubmed publisher..Together, these results reveal a critical function of Rac1 in morphogenesis of the auditory sensory epithelium and stereociliary bundle...
- Lelli A, Michel V, Boutet de Monvel J, Cortese M, Bosch Grau M, Aghaie A, et al. Class III myosins shape the auditory hair bundles by limiting microvilli and stereocilia growth. J Cell Biol. 2016;212:231-44 pubmed publisher..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...
- Sekerkova G, Richter C, Bartles J. Roles of the espin actin-bundling proteins in the morphogenesis and stabilization of hair cell stereocilia revealed in CBA/CaJ congenic jerker mice. PLoS Genet. 2011;7:e1002032 pubmed publisher..A congenic jerker mouse line was prepared by repeated backcrossing into the inbred CBA/CaJ strain, which is known for excellent ..
- Steigelman K, Lelli A, Wu X, Gao J, Lin S, Piontek K, et al. Polycystin-1 is required for stereocilia structure but not for mechanotransduction in inner ear hair cells. J Neurosci. 2011;31:12241-50 pubmed publisher..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. ..
- Smith L, Milne L, Nelson N, Eddie S, Brown P, Atanassova N, et al. KATNAL1 regulation of sertoli cell microtubule dynamics is essential for spermiogenesis and male fertility. PLoS Genet. 2012;8:e1002697 pubmed publisher..Such information will have resonance both for future treatment of male fertility and the development of non-hormonal male contraceptives. ..
- Martin B, Clement Y, Venault P, Chapouthier G. Mouse chromosomes 4 and 13 are involved in beta-carboline-induced seizures. J Hered. 1995;86:274-9 pubmed
- Cabraja M, Bäurle J. Vestibular ganglion neurons survive hair cell defects in jerker, shaker, and Varitint-waddler mutants and downregulate calretinin expression. J Comp Neurol. 2007;504:418-26 pubmed..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/+)...
- Leibovici M, Verpy E, Goodyear R, Zwaenepoel I, Blanchard S, Laine S, et al. Initial characterization of kinocilin, a protein of the hair cell kinocilium. Hear Res. 2005;203:144-53 pubmed..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. ..
- Jones S, Johnson K, Yu H, Erway L, Alagramam K, Pollak N, et al. A quantitative survey of gravity receptor function in mutant mouse strains. J Assoc Res Otolaryngol. 2005;6:297-310 pubmed..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, ..
- Martinotti A, Cariani C, Melani C, Sozzi G, Spurr N, Pierotti M, et al. Isolation and mapping to 17p12-13 of the human homologous of the murine growth arrest specific Gas-3 gene. Hum Mol Genet. 1992;1:331-4 pubmed..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. ..
- Mantela J, Jiang Z, Ylikoski J, Fritzsch B, Zacksenhaus E, Pirvola U. The retinoblastoma gene pathway regulates the postmitotic state of hair cells of the mouse inner ear. Development. 2005;132:2377-88 pubmed..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. ..
- Kim H, Jackson T, Noben Trauth K. Genetic analyses of the mouse deafness mutations varitint-waddler (Va) and jerker (Espnje). J Assoc Res Otolaryngol. 2003;4:83-90 pubmed..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...
- Cryns K, van Spaendonck M, Flothmann K, van Alphen A, Van de Heyning P, Timmermans J, et al. Vestibular dysfunction in the epistatic circler mouse is caused by phenotypic interaction of one recessive gene and three modifier genes. Genome Res. 2002;12:613-7 pubmed..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. ..
- Zerr P, Martin B, Adelman J. The murine Bis1 seizure gene and the Kcnab2 gene encoding the beta2-subunit of the K+ channel are different. Neurogenetics. 2000;2:231-4 pubmed..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. ..
- Calderon A, Derr A, Stagner B, Johnson K, Martin G, Noben Trauth K. Cochlear developmental defect and background-dependent hearing thresholds in the Jackson circler (jc) mutant mouse. Hear Res. 2006;221:44-58 pubmed..Genome-wide linkage scans of backcross, intercross, and congenic progeny revealed a complex pattern of genetic and stochastic effects. ..
- Kocher W. [Studies on the genetics and pathology of the development of 8 labyrinth mutants (deaf-waltzer-shaker mutants) in the mouse (Mus musculus)]. Z Vererbungsl. 1960;91:114-40 pubmed
- Jahan I, Pan N, Kersigo J, Fritzsch B. Neurod1 suppresses hair cell differentiation in ear ganglia and regulates hair cell subtype development in the cochlea. PLoS ONE. 2010;5:e11661 pubmed publisher..Through this and other feedback, Neurod1 suppresses alternate fates of neurons to differentiate as hair cells and regulates hair cell subtypes. ..
- van Abeelen J. Behavioural profiles of neurological mutant mice. Genetica. 1966;37:149-58 pubmed
- Forge A, Taylor R, Dawson S, Lovett M, Jagger D. Disruption of SorCS2 reveals differences in the regulation of stereociliary bundle formation between hair cell types in the inner ear. PLoS Genet. 2017;13:e1006692 pubmed publisher..The results suggest that SorCS2 plays a role upstream of the intrinsic polarity pathway and that there are differences between hair cell types in the deployment of the machinery that generates a precisely organised hair bundle. ..