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

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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

• Document type: Journal article
• Source: BMC GENETICS; v. 18, MAY 5 2017.
• Web of Science Citations: 2

Abstract

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. (AU)

• FAPESP's process: 08/58731-2 - Vision as a sensitive indicator of conditions threatening retinal and central nervous system function
• Grantee: Dora Selma Fix Ventura
• Support Opportunities: Research Projects - Thematic Grants
• FAPESP's process: 14/25743-9 - Expression of opsins and melanopsins in snakes' retinas: molecular genetics and immunohistochemistry
• Grantee: Einat Hauzman
• Support Opportunities: Scholarships in Brazil - Post-Doctoral
• FAPESP's process: 11/17423-6 - Study of the visual pigments of New World primates and analysis of genetic markers for diabetic retinopathy
• Grantee: Daniela Maria Oliveira Bonci
• Support Opportunities: Scholarships in Brazil - Post-Doctoral
• FAPESP's process: 09/06026-6 - Psychophysical and genetic study of color vision deficiency in humans with different pathologies
• Grantee: Dora Selma Fix Ventura
• Support Opportunities: Regular Research Grants