Belyantseva Inna A, Labay Valentina, Boger Erich T, Griffith Andrew J, Friedman Thomas B
Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 5 Research Court, Rockville, MD 20850, USA.
Trends Mol Med. 2003 Nov;9(11):458-61. doi: 10.1016/j.molmed.2003.09.008.
Mutations in whirlin, a putative PDZ scaffold protein, have recently been shown to cause deafness and short cochlear hair cell stereocilia in whirler mice and recessive deafness (DFNB31) in humans. Through its PDZ domains, whirlin might organize a group of proteins into a functional complex required for stereocilia elongation. Identifying these protein partners will advance our understanding of the development of stereocilia and their function as mechanosensory organelles indispensable for normal hearing.
最近研究表明,假定的PDZ支架蛋白whirlin中的突变会导致whirler小鼠耳聋和耳蜗毛细胞静纤毛短小,以及人类隐性耳聋(DFNB31)。通过其PDZ结构域,whirlin可能将一组蛋白质组织成静纤毛伸长所需的功能复合物。识别这些蛋白质伴侣将增进我们对静纤毛发育及其作为正常听力不可或缺的机械感觉细胞器功能的理解。