GONUTS has been updated to MW1.31 Most things seem to be working but be sure to report problems.

Have any questions? Please email us at ecoliwiki@gmail.com

PMID:7704033

From GONUTS
Jump to: navigation, search
Citation

Fukai, K, Holmes, SA, Lucchese, NJ, Siu, VM, Weleber, RG, Schnur, RE and Spritz, RA (1995) Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism. Nat. Genet. 9:92-5

Abstract

Autosomal recessive ocular albinism (AROA) is a disorder characterized by reduced pigmentation of the retina and iris, hypoplastic fovea, variably reduced visual acuity and nystagmus. Pigmentation of the skin and hair is normal, but is usually slightly lighter than in unaffected sibs. We analysed 12 unrelated patients with AROA, and found that two had abnormalities of the tyrosinase (TYR) gene. These two patients were each a compound heterozygote for a different pathologic mutant allele and an allele containing a 'normal' polymorphism, Arg402Gln, which results in a tyrosinase polypeptide with reduced thermal stability. In these patients, AROA thus appears to represent a clinically mild form of OCA1, with a fixed visual deficit resulting from low tyrosinase activity during fetal development but with normal pigmentation of the skin and hair postnatally.

Links

PubMed Online version:10.1038/ng0195-92

Keywords

Albinism, Ocular/enzymology; Albinism, Ocular/genetics; Alleles; Amino Acid Sequence; Base Sequence; Child; Child, Preschool; DNA/genetics; DNA Primers/genetics; Female; Genes, Recessive; Heterozygote; Homozygote; Humans; Male; Molecular Sequence Data; Monophenol Monooxygenase/genetics; Point Mutation; Polymorphism, Genetic

Significance

Annotations

Gene product Qualifier GO Term Evidence Code with/from Aspect Extension Notes Status

HUMAN:TYRO

involved_in

GO:0007601: visual perception

ECO:0000304: author statement supported by traceable reference used in manual assertion

P

Seeded From UniProt

complete

HUMAN:TYRO

involved_in

GO:0006726: eye pigment biosynthetic process

ECO:0000304: author statement supported by traceable reference used in manual assertion

P

Seeded From UniProt

complete

HUMAN:TYRO

involved_in

GO:0006583: melanin biosynthetic process from tyrosine

ECO:0000304: author statement supported by traceable reference used in manual assertion

P

Seeded From UniProt

complete


See also

References

See Help:References for how to manage references in GONUTS.