02119naa a2200361 a 450000100080000000500110000800800410001902200140006002400330007410000190010724501040012626000090023052011220023965000110136165000140137265000290138665000220141565000150143765000120145265000270146465300140149165300210150565300270152665300260155365300150157970000180159470000260161270000180163870000200165670000200167670000180169677300430171419395872012-11-13       2012    bl uuuu     u00u1 u    #d  a1471-21567 a10.1186/1471-2156-13-622DOI1 aDAME, M. C. F.  aA nonsense mutation in the tyrosinase gene causes albinism in water buffalo.h[electronic resource]  c2012  aBackground: 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.  aAlbino  aBuffaloes  aMonophenol monooxygenase  aNonsense Mutation  aStop Codon  aBúfalo  aMutação Hereditária  aAlbinismo  aCodão de Parada  aMonofenol monoxigenase  aMutação sem Sentido  aTirosinase1 aXAVIER, G. M.1 aOLIVEIRA FILHO, J. P.1 aBORGES, A. S.1 aOLIVEIRA, H. N.1 aRIET-CORREA, F.1 aSCHILD, A. L.  tBMC Geneticsgv. 13, n. 62, jul. 2012.