期刊
CELL
卷 102, 期 3, 页码 377-385出版社
CELL PRESS
DOI: 10.1016/S0092-8674(00)00042-8
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资金
- NICHD NIH HHS [HD35280, HD01210, K02 HD001210-04] Funding Source: Medline
- NIDCD NIH HHS [R01 DC004314-01, DC04314, R01 DC004314] Funding Source: Medline
- NIGMS NIH HHS [R37 GM052857, R37 GM052857-23] Funding Source: Medline
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.
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