A novel nonsense mutation in the tyrosinase gene is related to the albinism in a capuchin monkey (Sapajus apella)

作者：Galante Rocha de Vasconcelos Felipe Tadeu; Hauzman Einat; Henriques Leonardo Dutra; Kilpp Goulart Paulo Roney; Galvao Olavo de Faria; Sano Ronaldo Yuiti; Souza Givago da Silva; Alfaro Jessica Lynch; de Lima Silveira Luis Carlos; Ventura Dora Fix; Oliveira Bonci Daniela Maria

来源：BMC Genetics, 2017, 18(1): 39.

DOI：10.1186/s12863-017-0504-8

• Albino
• OCA
• TYR gene
• Sapajus apella
• Stop codon

Background: Oculocutaneous Albinism (OCA) is an autosomal recessive inherited condition that affects the pigmentation of eyes, hair and skin. The OCA phenotype may be caused by mutations in the tyrosinase gene (TYR), which expresses the tyrosinase enzyme and has an important role in the synthesis of melanin pigment. The aim of this study was to identify the genetic mutation responsible for the albinism in a captive capuchin monkey, and to describe the TYR gene of normal phenotype individuals. In addition, we identified the subject's species.
Results: A homozygous nonsense mutation was identified in exon 1 of the TYR gene, with the substitution of a cytosine for a thymine nucleotide (C64T) at codon 22, leading to a premature stop codon (R22X) in the albino robust capuchin monkey. The albino and five non-albino robust capuchin monkeys were identified as Sapajus apella, based on phylogenetic analyses, pelage pattern and geographic provenance. One individual was identified as S. macrocephalus.
Conclusion: We conclude that the point mutation C64T in the TYR gene is responsible for the OCA1 albino phenotype in the capuchin monkey, classified as Sapajus apella.

• 出版日期2017-5-5