Título:	A nonsense mutation in the tyrosinase gene causes albinism in water buffalo.
Autor:	DAME, M. C. F. XAVIER, G. M. OLIVEIRA FILHO, J. P. BORGES, A. S. OLIVEIRA, H. N. RIET-CORREA, F. SCHILD, A. L.
Afiliación:	MARIA CECILIA FLORISBAL DAME, CPACT; Gildenor Medeiros Xavier; José Paes Oliveira Filho; Alexandre Secorun Borges; Henrique Nunes Oliveira; Franklin Riet-Correa; Ana Lucia Schild.
Año:	2012
Referencia:	BMC Genetics, v. 13, n. 62, jul. 2012.
Descripción:	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
Palabras clave:	Albinismo Mutação sem Sentido Codão de Parada Tirosinase Monofenol monoxigenase
ISSN:	1471-2156
DOI:	10.1186/1471-2156-13-62
Tipo de Material:	Artigo de periódico
Acceso:	openAccess
Aparece en las colecciones:	Artigo em periódico indexado (CPACT)