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.

Bassi, M.T., Schiaffino, M.V., Renieri, A., DE NIGRIS, F., Galli, L., Bruttini, M., et al. (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.

RENIERI, ALESSANDRA;
1995

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.
Bassi, M.T., Schiaffino, M.V., Renieri, A., DE NIGRIS, F., Galli, L., Bruttini, M., et al. (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.
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11365/36732
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