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|Title:||A nonsense mutation in the tyrosinase gene causes albinism in water buffalo.|
|Authors:||DAME, M. C. F.|
XAVIER, G. M.
OLIVEIRA FILHO, J. P.
BORGES, A. S.
OLIVEIRA, H. N.
SCHILD, A. L.
|Affiliation:||MARIA CECILIA FLORISBAL DAME, CPACT; Gildenor Medeiros Xavier; José Paes Oliveira Filho; Alexandre Secorun Borges; Henrique Nunes Oliveira; Franklin Riet-Correa; Ana Lucia Schild.|
|Citation:||BMC Genetics, v. 13, n. 62, jul. 2012.|
|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.|
Mutação sem Sentido
Codão de Parada
|Type of Material:||Artigo de periódico|
|Appears in Collections:||Artigo em periódico indexado (CPACT)|