title: The deaf jerker mouse has a mutation in the gene encoding the espin actin-bundling proteins of hair cell stereocilia and lacks espins.
abstract: The espins are actin-bundling proteins of brush border microvilli and Sertoli cell-spermatid junctions. We have determined 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. The espin gene maps to the same region of mouse chromosome 4 as jerker. The tissues of jerker mice do not accumulate espin proteins but contain normal levels of espin mRNAs. The espin gene of jerker mice has a frameshift mutation that affects the espin C-terminal actin-bundling module. These data suggest that jerker mice are, in effect, espin null and that the jerker phenotype results from a mutation in the espin gene.
authors.affiliation: Department of Cell and Molecular Biology and the Institute for Neuroscience, Northwestern University Medical School, Chicago, Illinois 60611, USA.
authors.forename: L
authors.initials: L
authors.lastname: Zheng
authors.forename: G
authors.initials: G
authors.lastname: Sekerková
authors.forename: K
authors.initials: K
authors.lastname: Vranich
authors.forename: L G
authors.initials: LG
authors.lastname: Tilney
authors.forename: E
authors.initials: E
authors.lastname: Mugnaini
authors.forename: J R
authors.initials: JR
authors.lastname: Bartles
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D002874:Chromosome Mapping; D002923:Cilia / Q000737:chemistry* / Q000648:ultrastructure; D003051:Cochlea / Q000737:chemistry / Q000648:ultrastructure; D003638:Deafness / Q000235:genetics*; D016368:Frameshift Mutation; D006198:Hair Cells, Auditory / Q000737:chemistry* / Q000648:ultrastructure; D006720:Homozygote; D007668:Kidney / Q000737:chemistry; D008297:Male; D051379:Mice; D008817:Mice, Mutant Strains; D008840:Microfilament Proteins / Q000235:genetics* / Q000302:isolation & purification*; D008969:Molecular Sequence Data; D013737:Testis / Q000737:chemistry; D014722:Vestibule, Labyrinth / Q000737:chemistry / Q000648:ultrastructure
chemical_list: D008840:Microfilament Proteins; C104108:espin protein, mouse