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

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 pig...

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Bibliographic Details
Published in:BMC genetics 2017-05, Vol.18 (1), p.39-39, Article 39
Main Authors: Galante Rocha de Vasconcelos, Felipe Tadeu, Hauzman, Einat, Dutra Henriques, Leonardo, Kilpp Goulart, Paulo Roney, de Faria Galvão, Olavo, Sano, Ronaldo Yuiti, da Silva Souza, Givago, Lynch Alfaro, Jessica, de Lima Silveira, Luis Carlos, Fix Ventura, Dora, Oliveira Bonci, Daniela Maria
Format: Article
Language:English
Subjects:
Albinism
Albinism - enzymology
Albinism - genetics
Albinism - veterinary
Albino
Animals
Cebus
Codon, Nonsense - genetics
Cytochrome
Cytosine
Deoxyribonucleic acid
DNA
Female
Genes
Genotype & phenotype
Hair
Male
Mammals
Melanin
Monkey Diseases - enzymology
Monkey Diseases - genetics
Monkeys
Monophenol Monooxygenase - genetics
Mutation
Nonsense mutation
OCA
Pelage
Phenotype
Phylogenetics
Phylogeny
Pigmentation
Pigmentation - genetics
Point mutation
Sapajus apella
Skin
Stop codon
Taxonomy
Thymine
TYR gene
Tyrosinase
Tyrosinase gene
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Summary: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. 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. 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.
ISSN:1471-2156
1471-2156
DOI:10.1186/s12863-017-0504-8