Author(s): DAME, M. C. F.; XAVIER, G. M.; OLIVEIRA FILHO, J. P.; BORGES, A. S.; OLIVEIRA, H. N.; RIET-CORREA, F.; SCHILD, A. L.

Summary: 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.

Publication year: 2012

Types of publication: Journal article

Unit: Embrapa Temperate Agriculture

Keywords: Albinismo, Albino, Buffaloes, Búfalo, Codão de Parada, Monofenol monoxigenase, Monophenol monooxygenase, Mutação Hereditária, Mutação sem Sentido, Nonsense Mutation, Stop Codon, Tirosinase