Please use this identifier to cite or link to this item: http://www.alice.cnptia.embrapa.br/alice/handle/doc/939587
Research center of Embrapa/Collection: Embrapa Clima Temperado - Artigo em periódico indexado (ALICE)
Date Issued: 2012
Type of Material: Artigo em periódico indexado (ALICE)
Authors: DAME, M. C. F.
XAVIER, G. M.
OLIVEIRA FILHO, J. P.
BORGES, A. S.
OLIVEIRA, H. N.
RIET-CORREA, F.
SCHILD, A. L.
Additional Information: MARIA CECILIA FLORISBAL DAME, CPACT; Gildenor Medeiros Xavier; José Paes Oliveira Filho; Alexandre Secorun Borges; Henrique Nunes Oliveira; Franklin Riet-Correa; Ana Lucia Schild.
Title: A nonsense mutation in the tyrosinase gene causes albinism in water buffalo.
Publisher: BMC Genetics, v. 13, n. 62, jul. 2012.
Language: en
Keywords: Albinismo
Mutação sem Sentido
Codão de Parada
Tirosinase
Monofenol monoxigenase
Description: 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.
Thesagro: Búfalo
Mutação Hereditária
NAL Thesaurus: Albino
Buffaloes
Nonsense Mutation
Stop Codon
Monophenol monooxygenase
Data Created: 2012-11-13
ISSN: 1471-2156
Appears in Collections:Artigo em periódico indexado (CPACT)

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