The Deaf Jerker Mouse Has a Mutation in the Gene Encoding the Espin Actin-Bundling Proteins of Hair Cell Stereocilia and Lacks Espins

• Published in: Cell 2000-08, Vol.102 (3), p.377-385
• Main Authors: Zheng, Lili, Sekerková, Gabriela, Vranich, Kelly, Tilney, Lewis G., Mugnaini, Enrico, Bartles, James R.
• Format: Article
• Language: English
• Subjects: actin-bundling protein; actin-bundling proteins; Amino Acid Sequence; Animals; chromosome 4; Chromosome Mapping; Cilia - chemistry; Cilia - ultrastructure; Cochlea - chemistry; Cochlea - ultrastructure; Deafness - genetics; epsin gene; espins; Frameshift Mutation; hair cells; Hair Cells, Auditory - chemistry; Hair Cells, Auditory - ultrastructure; Homozygote; jerker gene; Kidney - chemistry; Male; Mice; Mice, Mutant Strains; Microfilament Proteins - genetics; Microfilament Proteins - isolation & purification; Molecular Sequence Data; Space life sciences; stereocilia; Testis - chemistry; Vestibule, Labyrinth - chemistry; Vestibule, Labyrinth - ultrastructure
• ISSN: 0092-8674; 1097-4172
• DOI: 10.1016/S0092-8674(00)00042-8

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.