title: Molecular basis of albinism in the rhesus monkey.
abstract: Sequence analysis of the tyrosinase (TYR) coding region from one albino rhesus monkey (Macaca mulatta) family revealed that the two monkeys with phenotype similar to human TYR-negative oculocutaneous albinism (OCA) were homozygous for a missense mutation (S184TER) in exon 1 at codon 184. The offspring of one of the albino monkey ("Kangkang") are all heterozygous for the S184TER mutation, but the S184TER mutation was not observed in 93 control individuals. We conclude that the point mutation is responsible and sufficient to generate the albino rhesus monkey phenotype. The rough age of the S184TER nonsense mutation may be about 0.8 million years using a rate of 0.16% per million years.
authors.affiliation: Laboratory of Cellular and Molecular Evolution, Kunming Institute of Zoology, The Chinese Academy of Sciences, Kunming, People's Republic of China.
authors.forename: B
authors.initials: B
authors.lastname: Ding
authors.forename: O A
authors.initials: OA
authors.lastname: Ryder
authors.forename: X
authors.initials: X
authors.lastname: Wang
authors.forename: S C
authors.initials: SC
authors.lastname: Bai
authors.forename: S Q
authors.initials: SQ
authors.lastname: Zhou
authors.forename: Y
authors.initials: Y
authors.lastname: Zhang
mesh_terms: D016115:Albinism, Oculocutaneous / Q000235:genetics*; D000595:Amino Acid Sequence; D000818:Animals; D006801:Humans; D008253:Macaca mulatta; D008969:Molecular Sequence Data; D014442:Monophenol Monooxygenase / Q000737:chemistry / Q000235:genetics*; D009154:Mutation; D011110:Polymorphism, Genetic
chemical_list: D014442:Monophenol Monooxygenase