A nonsense mutation in the tyrosinase gene causes albinism in water buffalo.

Abstract:

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.

journal_name

BMC Genet

journal_title

BMC genetics

authors

Damé MC,Xavier GM,Oliveira-Filho JP,Borges AS,Oliveira HN,Riet-Correa F,Schild AL

doi

10.1186/1471-2156-13-62

subject

Has Abstract

pub_date

2012-07-20 00:00:00

pages

62

issn

1471-2156

pii

1471-2156-13-62

journal_volume

13

pub_type

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