Dixon M J, Gazzard J, Chaudhry S S, Sampson N, Schulte B A, Steel K P
School of Biological Sciences and Department of Dental Medicine and Surgery, 3.239 Stopford Building, University of Manchester, Oxford Road, Manchester M13 9PT, UK.
Hum Mol Genet. 1999 Aug;8(8):1579-84. doi: 10.1093/hmg/8.8.1579.
Hearing impairment is a common human condition, but we know little about the molecular basis of cochlear function. Shaker-with-syndactylism (sy) is a classic deaf mouse mutant and we show here that a second allele, sy(ns), is associated with abnormal production of endolymph, the fluid bathing sensory hair cells. Using a positional candidate approach, we demonstrate that mutations in the gene encoding the basolateral Na-K-Cl co-transporter Slc12a2 (Nkcc1, mBSC2) cause the deafness observed in sy and sy(ns) mice. This finding provides the molecular basis of another link in the chain of K+recycling in the cochlea, a process essential for normal cochlear function.
听力障碍是一种常见的人类疾病，但我们对耳蜗功能的分子基础知之甚少。摇晃并指（sy）是一种经典的耳聋小鼠突变体，我们在此表明，第二个等位基因sy(ns)与内淋巴（即包围感觉毛细胞的液体）的异常产生有关。使用定位候选基因方法，我们证明编码基底外侧钠钾氯共转运体Slc12a2（Nkcc1，mBSC2）的基因突变导致了在sy和sy(ns)小鼠中观察到的耳聋。这一发现为耳蜗中钾离子循环链中的另一个环节提供了分子基础，而钾离子循环是正常耳蜗功能所必需的过程。
