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| DAME, M. C. F.; XAVIER, G. M.; OLIVEIRA FILHO, J. P.; BORGES, A. S.; OLIVEIRA, H. N.; RIET-CORREA, F.; SCHILD, A. L.. |
| 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... |
| Tipo: Artigo de periódico |
Palavras-chave: Albinismo; Mutação sem Sentido; Codão de Parada; Tirosinase; Monofenol monoxigenase; Búfalo; Mutação Hereditária; Albino; Buffaloes; Nonsense Mutation; Stop Codon; Monophenol monooxygenase. |
| Ano: 2012 |
URL: http://www.alice.cnptia.embrapa.br/alice/handle/doc/939587 |
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| Lemer, Sarah; Saulnier, Denis; Gueguen, Yannick; Planes, Serge. |
| Background: Color polymorphism in the nacre of pteriomorphian bivalves is of great interest for the pearl culture industry. The nacreous layer of the Polynesian black-lipped pearl oyster Pinctada margaritifera exhibits a large array of color variation among individuals including reflections of blue, green, yellow and pink in all possible gradients. Although the heritability of nacre color variation patterns has been demonstrated by experimental crossing, little is known about the genes involved in these patterns. In this study, we identify a set of genes differentially expressed among extreme color phenotypes of P. margaritifera using a suppressive and subtractive hybridization (SSH) method comparing black phenotypes with full and half albino individuals.... |
| Tipo: Text |
Palavras-chave: Differential expression; Biomineralization; Nacre; Pearl; Pigmentation; Albino. |
| Ano: 2015 |
URL: http://archimer.ifremer.fr/doc/00275/38627/37167.pdf |
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