A nonsense mutation in the tyrosinase gene causes albinism in water buffalo
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Data
2012-07-20
Autores
Florisbal Dame, Maria Cecilia
Xavier, Gildenor Medeiros
Oliveira-Filho, Jose Paes [UNESP]
Borges, Alexandre Secorun [UNESP]
Oliveira, Henrique Nunes de [UNESP]
Riet-Correa, Franklin
Schild, Ana Lucia
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Editor
Biomed Central Ltd.
Resumo
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.
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Palavras-chave
Albinism, Buffalo, Nonsense mutation, Stop codon, Tyrosinase
Como citar
Bmc Genetics. London: Biomed Central Ltd., v. 13, p. 7, 2012.