Molecular basis of albinism in the rhesus monkey

Mutat Res. 2000 Apr 3;449(1-2):1-6. doi: 10.1016/s0027-5107(00)00008-7.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Albinism, Oculocutaneous / genetics*
  • Amino Acid Sequence
  • Animals
  • Humans
  • Macaca mulatta
  • Molecular Sequence Data
  • Monophenol Monooxygenase / chemistry
  • Monophenol Monooxygenase / genetics*
  • Mutation
  • Polymorphism, Genetic

Substances

  • Monophenol Monooxygenase