859 resultados para white coat
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Las asociaciones público privadas "APP" han sido utilizadas para distribuir riesgos y fomentar el desarrollo de los países a través de la provisión de infraestructura. Así, se implementan para proveer bienes y servicios públicos tanto en los sectores de infraestructura productiva (carreteras, puertos, aeropuertos, trenes), como en el sector de infraestructura social (escuelas, universidades, hospitales, edificaciones públicas, etc.). En Colombia, ante la escasez de recursos públicos y la necesidad de formular posiibles soluciones a la crisis del sector salud, surge como una posible solución el modelo de APP consagrado en la Ley 1508 de 2008.
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Variants in the EDNRB, KIT, MITF, PAX3 and TRPM1 genes are known to cause white spotting phenotypes in horses, which can range from the common white markings up to completely white horses. In this study, we investigated these candidate genes in 169 horses with white spotting phenotypes not explained by the previously described variants. We identified a novel missense variant, PAX3:p.Pro32Arg, in Appaloosa horses with a splashed white phenotype in addition to their leopard complex spotting patterns. We also found three novel variants in the KIT gene. The splice site variant c.1346+1G>A occurred in a Swiss Warmblood horse with a pronounced depigmentation phenotype. The missense variant p.Tyr441Cys was present in several part-bred Arabians with sabino-like depigmentation phenotypes. Finally, we provide evidence suggesting that the common and widely distributed KIT:p.Arg682His variant has a very subtle white-increasing effect, which is much less pronounced than the effect of the other described KIT variants. We termed the new KIT variants W18-W20 to provide a simple and unambiguous nomenclature for future genetic testing applications.
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Melanocortin-1 receptor (MC1R) plays a major role in pigmentation in many species. To investigate if the MC1R gene is associated with coat color in water buffalo, the coding region of MC1R gene of 216 buffalo samples was sequenced, which included 49 black river buffalo (Murrah and Nili-Ravi), 136 swamp buffalo (Dehong, Diandongnan, Dechang, Guizhou, and Xilin) with white and gray body, and 31 hybrid offspring of river buffalo Nili-Ravi (or Murrah) and swamp buffalo. Among the three variation sites found, SNP684 was synonymous, while SNP310 and SNP384 were nonsynonymous, leading to p.S104G and p.I128M changes, respectively. Only Individuals carrying homozygote E-BR/E-BR were black. The genotype and phenotype analysis of the hybrid offspring of black river buffalo and gray swamp buffalo further revealed that the river buffalo type allele E-BR or the allele carrying the amino acid p.104S was important for the full function of MC1R. The in silico functional analysis showed that the amino acid substitutions p.G104S and p.M128I had significant impact on the function of MC1R. Above results indicate that the allele E-BR or the allele carrying the amino acid p.104S was associated with the black coat color in buffalo.
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Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
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O coatá-de-testa-branca, Ateles marginatus, é uma espécie de primata ameaçada de extinção segundo a UICN. Endêmica da Amazônia brasileira, este status deve-se a uma combinação de uma distribuição geográfica relativamente restrita e às crescentes pressões antrópicas dentro desta área. O presente estudo compreendeu a margem direita do baixo Rio Tapajós, centrado na rodovia BR-163 (Santarém-Cuiabá), região de intensa e antiga ocupação humana. O objetivo principal do estudo foi uma avaliação da distribuição e abundância de A. marginatus dentro desta área, e a análise dos fatores determinantes destas variáveis. Foram visitados 16 sítios, onde moradores foram entrevistados informalmente para a confirmação da presença ou ausência da espécie. Levantamentos populacionais de transecção linear foram realizados em oito sítios, representativos de diferentes graus de fragmentação de hábitat, com um percurso total de 697,6 km. Em dois sítios, agrupamentos de A. marginatus foram monitorados para a obtenção de dados sobre seu comportamento e ecologia. Os resultados indicam que a espécie é ausente de algumas áreas, incluindo lacunas naturais em sua distribuição e uma zona de extinção local, que parece estender até pelo menos 60 km a sul da cidade de Santarém. Um total de 23 espécies de mamíferos não-voadores foram registradas nos levantamentos populacionais, mas a presença de A. marginatus foi confirmada em apenas três sítios. O estudo indica que fragmentos isolados de floresta com menos de cem hectares não suportam populações de A. marginatus. No caso de fragmentos maiores, a presença e abundância da espécie parecem ser influenciadas mais diretamente por fatores antrópicos (caça e extração de madeira). Mesmo em floresta contínua, a espécie parece ser relativamente pouco abundante, mas semelhante a outras populações de Ateles na Amazônia brasileira. Dois grupos, um com oito membros e o outro com pelo menos vinte, foram identificados durante o monitoramento. Como em outros membros do gênero, a formação de subagrupamentos (fissão-fusão), uma proporção relativamente alta de fêmeas na população e uma dieta frugívora são observadas também em A. marginatus. O estudo deixa clara a situação crítica da espécie na região, frente à ocupação humana, e a necessidade urgente tanto de deter o processo de fragmentação de hábitat como de implantar novas unidades de conservação.
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Coat color and pattern variations in domestic animals are frequently inherited as simple monogenic traits, but a number are known to have a complex genetic basis. While the analysis of complex trait data remains a challenge in all species, we can use the reduced haplotypic diversity in domestic animal populations to gain insight into the genomic interactions underlying complex phenotypes. White face and leg markings are examples of complex traits in horses where little is known of the underlying genetics. In this study, Franches-Montagnes (FM) horses were scored for the occurrence of white facial and leg markings using a standardized scoring system. A genome-wide association study (GWAS) was performed for several white patterning traits in 1,077 FM horses. Seven quantitative trait loci (QTL) affecting the white marking score with p-values p≤10(-4) were identified. Three loci, MC1R and the known white spotting genes, KIT and MITF, were identified as the major loci underlying the extent of white patterning in this breed. Together, the seven loci explain 54% of the genetic variance in total white marking score, while MITF and KIT alone account for 26%. Although MITF and KIT are the major loci controlling white patterning, their influence varies according to the basic coat color of the horse and the specific body location of the white patterning. Fine mapping across the MITF and KIT loci was used to characterize haplotypes present. Phylogenetic relationships among haplotypes were calculated to assess their selective and evolutionary influences on the extent of white patterning. This novel approach shows that KIT and MITF act in an additive manner and that accumulating mutations at these loci progressively increase the extent of white markings.
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In April 2008 a Franches-Montagnes colt was born with an unusual coat colour phenotype which had never been observed in that population before. The foal showed extended white markings on body and legs, a white head and blue eyes. As both parents have an unremarkable bay coat colour phenotype, a de novo mutation was expected in the offspring and a candidate gene approach revealed a spontaneous mutation in the microphthalmia associated transcription factor gene (MITF). A detailed clinical examination in 2010 indicated an impaired hearing capacity. As in the American Paint Horse large white facial markings in combination with blue eyes are associated with deafness, the hearing capacity of the stallion was closer examined performing brainstem auditory-evoked responses (BAER). The BAER confirmed bilateral deafness in the Franches-Montagnes colt. It is assumed that the deafness is caused by a melanocyte deficiency caused by the MITF gene mutation. Unfortunately, due to castration of the horse, the causal association between the mutation in the MITF gene and clinical findings cannot be confirmed by experimental matings.
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Introd. and commentary by Joseph Haslewood.
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Includes indexes.