5 resultados para albinism
em Repositório Institucional UNESP - Universidade Estadual Paulista "Julio de Mesquita Filho"
Resumo:
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.
Resumo:
Complete albinism is a rare phenomenon that occurs in all vertebrate groups. In bats, albinism has been recorded in several species but this information has not previously been reviewed in detail nor has there been an analysis of its importance. In this study, cases of albinism from the literature are checked and new cases are presented. Complete albinism in bats is documented in eight families, 38 species, and at least 64 individuals (47.4% female female and 52.6% males; n = 38). of these, 39 individuals were observed and/or captured in sheltered roosts, such as caves (51.3%), mines and galleries (20.5%), buildings (17.9%), and hollow-trees and bird boxes (7.7%). Only one albino bat (2.6%) was captured in an external roost (foliage). This individual is the fruit bat, Artibeus planirostris, which is recorded here for the first time. Information on four additional cases of albino individuals of the common vampire bat, Desmodus rotundus, is also presented. It is suggested that sheltered roosts favour survival of albino bars, offering protection against sunlight, water loss, and visually hunting predators.
Resumo:
Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)
Resumo:
The urethra is the main place of entry for sexually transmitted pathogens. However, there is little literature on the morphology of the urogenital system, principally the urethra and ducts of the sex accessory glands. The Mongolian gerbil is an insectivorous, herbivorous and monogamous rodent with nocturnal habits; it has been used successfully as a laboratory animal since the 1960s. Therefore, the objective of the present paper was to describe the structure and ultrastructure of the urethra and its relations to the ducts of the accessory sex glands of the Mongolian gerbil (Meriones unguiculatus), contributing to the understanding of the reproductive biology of the rodent and aiming to provide data for future experimental studies. Conventional techniques of light and scanning electron microscopy were utilized. The urethra and ducts of the accessory sex glands are similar to those of the albino rat and the mouse. However, there is variation in drainage type among accessory sex glands for the inner urethra. The ducts of the seminal vesicle, the ductus deferens, drain their contents independently into the ampullary duct that opens in the urethra. The ducts of the prostate, coagulating and bulbourethral glands drain their contents independently into the urethra.