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.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 377-385 |
| Number of pages | 9 |
| Journal | Cell |
| Volume | 102 |
| Issue number | 3 |
| DOIs | |
| State | Published - Aug 4 2000 |
Funding
We thank Dr. Paul Matsudaira for the fimbrin antiserum; Dr. J. Carl Oberholtzer for the chicken cochlear cDNA library; Dr. Melissa Hartley for the rat cochlear cDNA library; Dr. David Z. Z. He for initial dissections of gerbil cochlea; Anli Li, Min Wang, Jodi Irwin, and Melissa Burns for assistance with library screening and DNA sequence analysis; and Dr. Rex Chisholm, Dr. Carolyn Jahn, Dr. Donna Whitlon, Dr. Bin Chen, and Benjarat Changyaleket for valuable discussions. This work was supported by NIH grants DC04314 and HD35280, NIH Independent Scientist (K02) Award HD01210 and American Cancer Society grant RPG-96-094-04-CSM awarded to J. R. B.; NIH grant DC02764-05 awarded to E. M.; and NIH grant GM52857 awarded to L. G. T.
ASJC Scopus subject areas
- General Biochemistry, Genetics and Molecular Biology