Bassi M T, Schiaffino M V, Renieri A, De Nigris F, Galli L, Bruttini M, Gebbia M, Bergen A A, Lewis R A, Ballabio A
Department of Molecular Biology, University of Siena, Italy.
Nat Genet. 1995 May;10(1):13-9. doi: 10.1038/ng0595-13.
Ocular albinism type 1 (OA1) is an X-linked disorder characterized by severe impairment of visual acuity, retinal hypopigmentation and the presence of macromelanosomes. We isolated a novel transcript from the OA1 critical region in Xp22.3-22.2 which is expressed at high levels in RNA samples from retina, including the retinal pigment epithelium, and from melanoma. This gene encodes a protein of 424 amino acids displaying several putative transmembrane domains and sharing no similarities with previously identified molecules. Five intragenic deletions and a 2 bp insertion resulting in a premature stop codon were identified from DNA analysis of patients with OA1, indicating that we have identified the OA1 gene.
1型眼白化病（OA1）是一种X连锁疾病，其特征为视力严重受损、视网膜色素减退以及存在巨大黑素小体。我们从Xp22.3 - 22.2的OA1关键区域分离出一种新的转录本，该转录本在来自视网膜（包括视网膜色素上皮）和黑色素瘤的RNA样本中高表达。该基因编码一种由424个氨基酸组成的蛋白质，具有几个推定的跨膜结构域，与先前鉴定的分子无相似性。通过对OA1患者的DNA分析，鉴定出5个基因内缺失和一个导致提前终止密码子的2bp插入，表明我们已经鉴定出OA1基因。
