A nonsense mutation in the tyrosinase gene causes albinism in water buffaloReport as inadecuate

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BMC Genetics

, 13:62

Functional genetics


BackgroundOculocutaneous 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.

ResultsClinical 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.

ConclusionThis 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.

KeywordsAlbinism Buffalo Nonsense mutation Stop codon Tyrosinase Electronic supplementary materialThe online version of this article doi:10.1186-1471-2156-13-62 contains supplementary material, which is available to authorized users.

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Author: Maria Cecília Florisbal Damé - Gildenor Medeiros Xavier - José Paes Oliveira-Filho - Alexandre Secorun Borges - Henriq

Source: https://link.springer.com/


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