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

Felipe Tadeu Galante Rocha De Vasconcelos,Leonardo Dutra Henriques,Olavo De Faria Galvão,Jessica Lynch Alfaro,Ronaldo Yuiti Sano,Givago Da Silva Souza,Luis Carlos De Lima Silveira,Dora Fix Ventura,Daniela Maria Oliveira Bonci,Einat Hauzman,Paulo Roney Kilpp Goulart

doi:10.1186/s12863-017-0504-8

Abstract

BackgroundOculocutaneous 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.ResultsA 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.ConclusionWe 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.

Highlights

Oculocutaneous Albinism (OCA) is an autosomal recessive inherited condition that affects the pigmentation of eyes, hair and skin
We investigated the genetic causes of albinism in a capuchin monkey, named Sivuca, held in the Experimental School for Primates (EEP), at the Galante Rocha de Vasconcelos et al BMC Genetics (2017) 18:39
Capuchin monkey tyrosinase gene Most studied cases of albinism in human and other mammals are associated with mutations in the TYR gene and we focused our investigation on this gene in the albino capuchin monkey

Summary

Introduction

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. Albinism is a heterogeneous disorder, characterized by the absence or loss of melanin pigmentation in either skin, hair or eyes. This condition is considered rare in wild populations [1] possibly due to the reduction in camouflage [2, 3] and to its role in a number of pathologies that can compromise an animal’s fitness. A mutation in the SLC45A2 gene was indicated to cause the Type 4 Oculocutaneous Albinism (OCA4) phenotype in one specimen of gorilla (Gorilla gorilla) [24]

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