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

• Autor(a) principal: DAME, M. C. F.
• Data de Publicação: 2012
• Outros Autores: XAVIER, G. M., OLIVEIRA FILHO, J. P., BORGES, A. S., OLIVEIRA, H. N., RIET-CORREA, F., SCHILD, A. L.
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Repositório Institucional da EMBRAPA (Repository Open Access to Scientific Information from EMBRAPA - Alice)
• Texto Completo: http://www.alice.cnptia.embrapa.br/alice/handle/doc/939587
• topic: Albinismo; Mutação sem Sentido; Codão de Parada; Tirosinase; Monofenol monoxigenase; Búfalo; Mutação Hereditária; Albino; Buffaloes; Nonsense Mutation; Stop Codon; Monophenol monooxygenase

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.