Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome

M. T. Bassi, M. V. Schiaffino, A. Renieri, F. De Nigris, L. Galli, M. Bruttini, M. Gebbia, A. A B Bergen, R. A. Lewis, A. Ballabio

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)13-19
Number of pages7
JournalNature Genetics
Issue number1
Publication statusPublished - 1995

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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