Data/hora: 17/06/2024 03:53:55

Biblioteca(s): 	Embrapa Clima Temperado.	
Data corrente: 	13/11/2012	
Data da última atualização: 	13/11/2012	
Autoria: 	DAME, M. C. F.; XAVIER, G. M.; OLIVEIRA FILHO, J. P.; BORGES, A. S.; OLIVEIRA, H. N.; RIET-CORREA, F.; SCHILD, A. L.	
Afiliação: 	MARIA CECILIA FLORISBAL DAME, CPACT; Gildenor Medeiros Xavier; José Paes Oliveira Filho; Alexandre Secorun Borges; Henrique Nunes Oliveira; Franklin Riet-Correa; Ana Lucia Schild.	
Título: 	A nonsense mutation in the tyrosinase gene causes albinism in water buffalo.	
Ano de publicação: 	2012	
Fonte/Imprenta: 	BMC Genetics, v. 13, n. 62, jul. 2012.	
ISSN: 	1471-2156	
DOI: 	10.1186/1471-2156-13-62	
Idioma: 	Inglês	
Conteúdo: 	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.	
Palavras-Chave: 	Albinismo; Codão de Parada; Monofenol monoxigenase; Mutação sem Sentido; Tirosinase.	
Thesagro: 	Búfalo; Mutação Hereditária.	
Thesaurus Nal: 	Albino; Buffaloes; Monophenol monooxygenase; Nonsense Mutation; Stop Codon.	
Categoria do assunto: 	L Ciência Animal e Produtos de Origem Animal	
URL: 	http://ainfo.cnptia.embrapa.br/digital/bitstream/item/70034/1/15915.pdf	
Registro original: 	Embrapa Clima Temperado (CPACT)	
Exemplares: 	CPACT - (15915-1) - UPC - AP - DD - 00104 -  - 2012.00104 - DIS