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Open Access Highly Accessed Research article

A nonsense mutation in the tyrosinase gene causes albinism in water buffalo

Maria Cecília Florisbal Damé1, Gildenor Medeiros Xavier2, José Paes Oliveira-Filho3, Alexandre Secorun Borges4*, Henrique Nunes Oliveira5, Franklin Riet-Correa6 and Ana Lucia Schild7

Author Affiliations

1 Brazilian Agricultural Research Corporation, Embrapa, Pelotas, Rio Grande do Sul, 96.001-970, Brazil

2 Veterinary Hospital, Federal University of Campina Grande, Patos, Paraíba, 58700-000, Brazil

3 Laboratory of Molecular Biology of Department of Veterinary Clinical Science / College of Veterinary Medicine and Animal Science, Univ Estadual Paulista (Unesp), Botucatu, Sao Paulo, 18618-970, Brazil

4 Laboratory of Molecular Biology of Department of Veterinary Clinical Science / College of Veterinary Medicine and Animal Science, Univ Estadual Paulista (Unesp), Botucatu, Sao Paulo, 18618-970, Brazil

5 Departamento de Zootecnia / Faculdade de Ciências Agrárias e Veterinárias, Univ Estadual Paulista (Unesp), Jaboticabal, Sao Paulo, 14884-900, Brazil

6 Veterinary Hospital, Federal University of Campina Grande, Patos, Paraíba, 58700-000, Brazil

7 Veterinary Diagnostic Laboratory, Federal University of Pelotas, Pelotas, Rio Grande do Sul, 96010-900, Brazil

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BMC Genetics 2012, 13:62  doi:10.1186/1471-2156-13-62

Published: 20 July 2012

Abstract

Background

Oculocutaneous albinism (OCA) is an autosomal recessive hereditary pigmentation disorder affecting humans and several other animal species. Oculocutaneous albinism was studied in a herd of Murrah buffalo to determine the clinical presentation and genetic basis of albinism in this species.

Results

Clinical examinations and pedigree analysis were performed in an affected herd, and wild-type and OCA tyrosinase mRNA sequences were obtained. The main clinical findings were photophobia and a lack of pigmentation of the hair, skin, horns, hooves, mucosa, and iris. The results of segregation analysis suggest that this disease is acquired through recessive inheritance. In the OCA buffalo, a single-base substitution was detected at nucleotide 1,431 (G to A), which leads to the conversion of tryptophan into a stop codon at residue 477.

Conclusion

This premature stop codon produces an inactive protein, which is responsible for the OCA buffalo phenotype. These findings will be useful for future studies of albinism in buffalo and as a possible model to study diseases caused by a premature stop codon.

Keywords:
Albinism; Buffalo; Nonsense mutation; Stop codon; Tyrosinase