Tyrosinase is copper-containing enzyme that regulates and controls melanin biosynthesis. Human TYR gene consists of five exons spanning about 65kb on Chromosome 11q14-q21. Mutations within the TYR gene could lead to the oculocutaneous albinism (OCA) due to the failure of melanin formation. Through many studies about albinism have been investigated, TYR gene in the non-human primate has not yet been characterized.
In this study, we identified full-length TYR gene in cynomolgus monkey using RACE technique. Total, two different transcript variants are identified. First type of transcript is consist of well conserved five exons and ORF compared with human. However, second type of transcript is consist of only four exons created by exon 3 skipping and following frameshift event. The result of RT-PCR showed that two transcript variants were expressed in primates including human. Second type transcript variant generated by alternative splicing mechanism with exon skipping and its transcript variant encode malfunctioning tyrosinase by frameshift. As a result, we firstly identified full-length sequence of TYR gene and characterized in cynomolgus monkey and other primates. Therefore, their sequences could be useful information for biological research in phenotype analysis.