title: Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome.
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.
authors.affiliation: Department of Molecular Biology, University of Siena, Italy.
authors.forename: M T
authors.initials: MT
authors.lastname: Bassi
authors.forename: M V
authors.initials: MV
authors.lastname: Schiaffino
authors.forename: A
authors.initials: A
authors.lastname: Renieri
authors.forename: F
authors.initials: F
authors.lastname: De Nigris
authors.forename: L
authors.initials: L
authors.lastname: Galli
authors.forename: M
authors.initials: M
authors.lastname: Bruttini
authors.forename: M
authors.initials: M
authors.lastname: Gebbia
authors.forename: A A
authors.initials: AA
authors.lastname: Bergen
authors.forename: R A
authors.initials: RA
authors.lastname: Lewis
authors.forename: A
authors.initials: A
authors.lastname: Ballabio
mesh_terms: D016117:Albinism, Ocular / Q000235:genetics*; D000595:Amino Acid Sequence; D001483:Base Sequence; D003001:Cloning, Molecular; D018388:Codon, Terminator; D018076:DNA, Complementary; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D008297:Male; D008545:Melanoma / Q000378:metabolism; D008562:Membrane Glycoproteins; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D012333:RNA, Messenger / Q000032:analysis; D015183:Restriction Mapping; D012160:Retina / Q000378:metabolism; D017384:Sequence Deletion; D014960:X Chromosome
chemical_list: D018388:Codon, Terminator; D018076:DNA, Complementary; D005136:Eye Proteins; C095276:GPR143 protein, human; D008562:Membrane Glycoproteins; D008565:Membrane Proteins; D012333:RNA, Messenger