Fields Randall R, Zhou Guimei, Huang Dali, Davis Jack R, Möller Claes, Jacobson Samuel G, Kimberling William J, Sumegi Janos
Center for the Study and Treatment of Usher Syndrome, Boys Town National Research Hospital Omaha, NE, 68131, USA.
Am J Hum Genet. 2002 Sep;71(3):607-17. doi: 10.1086/342098. Epub 2002 Jul 16.
Usher syndrome type III is an autosomal recessive disorder characterized by progressive sensorineural hearing loss, vestibular dysfunction, and retinitis pigmentosa. The disease gene was localized to 3q25 and recently was identified by positional cloning. In the present study, we have revised the structure of the USH3 gene, including a new translation start site, 5' untranslated region, and a transcript encoding a 232-amino acid protein. The mature form of the protein is predicted to contain three transmembrane domains and 204 residues. We have found four new disease-causing mutations, including one that appears to be relatively common in the Ashkenazi Jewish population. We have also identified mouse (chromosome 3) and rat (chromosome 2) orthologues, as well as two human paralogues on chromosomes 4 and 10.
III型Usher综合征是一种常染色体隐性疾病，其特征为进行性感觉神经性听力丧失、前庭功能障碍和色素性视网膜炎。该疾病基因定位于3q25，最近通过定位克隆得以鉴定。在本研究中，我们修正了USH3基因的结构，包括一个新的翻译起始位点、5'非翻译区，以及一个编码232个氨基酸蛋白质的转录本。预计该蛋白质的成熟形式包含三个跨膜结构域和204个残基。我们发现了四个新的致病突变，其中一个在德系犹太人群体中似乎相对常见。我们还鉴定出了小鼠（3号染色体）和大鼠（2号染色体）的同源基因，以及4号和10号染色体上的两个人类旁系同源基因。
