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Provedor de dados:  Repositório Alice
País:  Brazil
Título:  A nonsense mutation in the tyrosinase gene causes albinism in water buffalo.
Autores:  DAME, M. C. F.
XAVIER, G. M.
OLIVEIRA FILHO, J. P.
BORGES, A. S.
OLIVEIRA, H. N.
RIET-CORREA, F.
SCHILD, A. L.
Data:  2012-11-13
Ano:  2012
Palavras-chave:  Albinismo
Mutação sem Sentido
Codão de Parada
Tirosinase
Monofenol monoxigenase
Búfalo
Mutação Hereditária
Albino
Buffaloes
Nonsense Mutation
Stop Codon
Monophenol monooxygenase
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.

2012
Tipo:  Artigo em periódico indexado (ALICE)
Idioma:  Inglês
Identificador:  1471-2156

15915

http://www.alice.cnptia.embrapa.br/handle/doc/939587

http://ainfo.cnptia.embrapa.br/digital/bitstream/item/70034/1/15915.pdf

10.1186/1471-2156-13-62
Editor:  BMC Genetics, v. 13, n. 62, jul. 2012.
Relação:  Embrapa Clima Temperado - Artigo em periódico indexado (ALICE)
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