MULTIPLE HUMAN AND MOUSE OTOFERLIN ISOFORMS

摘要

Using a candidate gene approach, we identified a novel human gene, Otoferlin, as underlying an autosomal recessive nonsyndromic prelingual deafness, DFNB9. Otoferlin is the second member of a mammalian gene family related to Caenorhabditis elegans fer-1. Further, we describe the search for the cDNA encoded by the mouse orthologous gene, Otof. A comprehensive analyses of the human and mouse otoferlin gene organization is also reported as well the characterization of several alternatively spliced forms.