title: The R402Q tyrosinase variant does not cause autosomal recessive ocular albinism.
abstract: Mutations in the gene for tyrosinase, the key enzyme in melanin synthesis, are responsible for oculocutaneous albinism type 1, and more than 100 mutations of this gene have been identified. The c.1205G > A variant of the tyrosinase gene (rs1126809) predicts p.R402Q and expression studies show thermolabile enzyme activity for the variant protein. The Q402 allele has been associated with autosomal recessive ocular albinism when it is in trans with a tyrosinase gene mutation associated with oculocutaneous albinism type 1. We have identified 12 families with oculocutaneous albinism type 1 that exhibit segregation of the c.1205G > A variant with a known pathologic mutation on the homologous chromosome, and demonstrate no genetic association between autosomal recessive oculocutaneous albinism and the Q402 variant. We conclude that the codon 402 variant of the tyrosinase gene is not associated with albinism.
authors.affiliation: Department of Experimental and Clinical Pharmacology, University of Minnesota, Minneapolis, Minnesota 55455, USA. oetti001@umn.edu
authors.forename: William S
authors.initials: WS
authors.lastname: Oetting
authors.forename: Jacy
authors.initials: J
authors.lastname: Pietsch
authors.forename: Marcia J
authors.initials: MJ
authors.lastname: Brott
authors.forename: Sarah
authors.initials: S
authors.lastname: Savage
authors.forename: James P
authors.initials: JP
authors.lastname: Fryer
authors.forename: C Gail
authors.initials: CG
authors.lastname: Summers
authors.forename: Richard A
authors.initials: RA
authors.lastname: King
mesh_terms: D016117:Albinism, Ocular / Q000201:enzymology / Q000235:genetics*; D016115:Albinism, Oculocutaneous / Q000201:enzymology / Q000235:genetics*; D000483:Alleles; D030541:Databases, Genetic; D005190:Family; D005787:Gene Frequency; D005808:Genes, Recessive; D014644:Genetic Variation; D006801:Humans; D014442:Monophenol Monooxygenase / Q000235:genetics*; D009154:Mutation
chemical_list: D014442:Monophenol Monooxygenase