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Article

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

BMC genetics - 5 May 2017

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

Abstract excerpt

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...

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Identifiers

PMID: 28476152
DOI: 10.1186/s12863-017-0504-8
PMCID: PMC5420114

Genes

TYR

Variants

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