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dc.contributor.authorDAME, M. C. F.pt_BR
dc.contributor.authorXAVIER, G. M.pt_BR
dc.contributor.authorOLIVEIRA FILHO, J. P.pt_BR
dc.contributor.authorBORGES, A. S.pt_BR
dc.contributor.authorOLIVEIRA, H. N.pt_BR
dc.contributor.authorRIET-CORREA, F.pt_BR
dc.contributor.authorSCHILD, A. L.pt_BR
dc.date.accessioned2012-11-13T11:11:11Zpt_BR
dc.date.available2012-11-13T11:11:11Zpt_BR
dc.date.created2012-11-13pt_BR
dc.date.issued2012pt_BR
dc.identifier.citationBMC Genetics, v. 13, n. 62, jul. 2012.pt_BR
dc.identifier.issn1471-2156pt_BR
dc.identifier.urihttp://www.alice.cnptia.embrapa.br/alice/handle/doc/939587pt_BR
dc.descriptionBackground: 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.pt_BR
dc.language.isoengeng
dc.rightsopenAccesseng
dc.subjectAlbinismopt_BR
dc.subjectMutação sem Sentidopt_BR
dc.subjectCodão de Paradapt_BR
dc.subjectTirosinasept_BR
dc.subjectMonofenol monoxigenasept_BR
dc.titleA nonsense mutation in the tyrosinase gene causes albinism in water buffalo.pt_BR
dc.typeArtigo de periódicopt_BR
dc.date.updated2012-11-13T11:11:11Zpt_BR
dc.subject.thesagroBúfalopt_BR
dc.subject.thesagroMutação Hereditáriapt_BR
dc.subject.nalthesaurusAlbinopt_BR
dc.subject.nalthesaurusBuffaloespt_BR
dc.subject.nalthesaurusNonsense Mutationpt_BR
dc.subject.nalthesaurusStop Codonpt_BR
dc.subject.nalthesaurusMonophenol monooxygenasept_BR
riaa.ainfo.id939587pt_BR
riaa.ainfo.lastupdate2012-11-13pt_BR
dc.identifier.doi10.1186/1471-2156-13-62pt_BR
dc.contributor.institutionMARIA CECILIA FLORISBAL DAME, CPACT; Gildenor Medeiros Xavier; José Paes Oliveira Filho; Alexandre Secorun Borges; Henrique Nunes Oliveira; Franklin Riet-Correa; Ana Lucia Schild.pt_BR
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