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 journalArticle

164 Citations (Scopus)

Abstract

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
Volume10
Issue number1
Publication statusPublished - 1995

Fingerprint

X Chromosome
Organism Cloning
Genes
Hypopigmentation
Retinal Pigment Epithelium
Nonsense Codon
Visual Acuity
Retina
Melanoma
RNA
Amino Acids
Ocular Albinism type 1
DNA
Proteins

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Bassi, M. T., Schiaffino, M. V., Renieri, A., De Nigris, F., Galli, L., Bruttini, M., ... Ballabio, A. (1995). Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome. Nature Genetics, 10(1), 13-19.

Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome. / Bassi, M. T.; Schiaffino, M. V.; Renieri, A.; De Nigris, F.; Galli, L.; Bruttini, M.; Gebbia, M.; Bergen, A. A B; Lewis, R. A.; Ballabio, A.

In: Nature Genetics, Vol. 10, No. 1, 1995, p. 13-19.

Research output: Contribution to journalArticle

Bassi, MT, Schiaffino, MV, Renieri, A, De Nigris, F, Galli, L, Bruttini, M, Gebbia, M, Bergen, AAB, Lewis, RA & Ballabio, A 1995, 'Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome', Nature Genetics, vol. 10, no. 1, pp. 13-19.
Bassi, M. T. ; Schiaffino, M. V. ; Renieri, A. ; De Nigris, F. ; Galli, L. ; Bruttini, M. ; Gebbia, M. ; Bergen, A. A B ; Lewis, R. A. ; Ballabio, A. / Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome. In: Nature Genetics. 1995 ; Vol. 10, No. 1. pp. 13-19.
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