Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome.
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
MT
Department of Molecular Biology, University of Siena, Italy.
Schiaffino
M V
MV
Renieri
A
A
De Nigris
F
F
Galli
L
L
Bruttini
M
M
Gebbia
M
M
Bergen
A A
AA
Lewis
R A
RA
Ballabio
A
A
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
D018388:Codon, Terminator; D018076:DNA, Complementary; D005136:Eye Proteins; C095276:GPR143 protein, human; D008562:Membrane Glycoproteins; D008565:Membrane Proteins; D012333:RNA, Messenger