Retinal morphology in Astyanax mexicanus during eye degeneration.

The teleost Astyanax mexicanus is one species extant in two readily available forms. One that lives in Mexican rivers and various convergent forms that live in nearby caves. These fish are born with eyes but in the cavefish, they degenerate during development. It is known that the lens of cavefish undergoes apoptosis and that some cells in the neuroretina also die. It has not been described, however, if glia and various components of the neuroretina form before complete eye degeneration. Here we examined the development of the retina of the closest living ancestor that lives in the rivers and two independently adapted of cavefish. We report that although the neuroretina is smaller and more compact, it has all cell types and layers including amacrine cells and Müller glia. While various makers for photoreceptors are present in the cavefish inner segments, the outer segments of the photoreceptors in cavefish are missing from the earliest stages examined. This shows that the machinery for visual transducing discs might still be present but not organized in one part of the cell. It is interesting to note that the deficiencies in Astyanax cavefish resemble retinal diseases, such as retinitis pigmentosa.

Genetic characterization of Colombian indigenous sheep / Caracterización genética de ovinos criollos colombianos / Caracterização genética de ovinos crioulos colombianos

Abstract Background: indigenous breeds are important for poor farmers because of their natural selection against harsh environments and adaptation to regional conditions. However, inbreeding of indigenous sheep populations has increased in Colombia due to indiscriminate cross-breeding with foreign animals and lack of reproductive controls, with subsequent loss in productivity, which poses a great risk for the conservation of valuable genes. Objective: to determine the genetic diversity in Colombian indigenous sheep by using a panel of 10 microsatellite molecular markers. Methods: blood samples from 362 individuals from 43 farms in 11 Colombian provinces were genotyped and analyzed for a panel of 10 microsatellite markers. Results: a total of 134 alleles were found (13.4 alleles/locus on average) with a range of observed and expected heterozygosity of 0.428 to 0.831 and 0.615 to 0.855, respectively, and 0.742 polymorphic information content (PIC). The average Wright F-statistics (FIS ) of the breeds was 0.107, suggesting moderate levels of inbreeding. Colombian sheep showed a low level of genetic differentiation among breeds (FST = 0.054) and STRUCTURE analysis showed complex patterns of admixture in the breeds. Conclusion: overall, Colombian sheep have high genetic variability, which is very important for future conservation programs and genetic improvement.

Resumen Antecedentes: las razas animales autóctonas son importantes para los agricultores de escasos recursos a causa de su selección natural contra el duro ambiente y su adaptación a condiciones regionales. Sin embargo en Colombia, debido al cruce indiscriminado con razas foráneas y a la falta de control de la reproducción, ha aumentado la consanguinidad en las poblaciones de ovinos criollos y por lo tanto la pérdida en la productividad, lo que supone un gran riesgo para la conservación de genes valiosos. Objetivo: determinar la diversidad genética en razas criollas de ovinos colombianos utilizando análisis por microsatélites. Métodos: se visitaron 43 granjas localizadas en 11 departamentos del país, en las cuales se tomaron muestras de sangre a 362 individuos. Las muestras fueron genotipadas y analizadas para un panel de 10 marcadores microsatélites. Resultados: un total de 134 alelos fueron encontrados (13,4 alelos/locus en promedio), con un rango de heterocigocidad observada y esperada de 0,428 a 0,831 y 0,615 a 0,855, respectivamente, y un contenido de información polimórfica (PIC) promedio de 0,742. El Wright F-statistics (FIS) promedio de las razas evaluadas fue 0,107, lo cual sugiere que las razas tienen niveles moderados de consanguinidad. Las ovejas colombianas presentaron un bajo grado de diferenciación genética entre las distintas razas (FST = 0,054) y el análisis de STRUCTURE mostró complejos patrones de mezcla en las razas estudiadas. Conclusión: en términos generales, las ovejas colombianas presentan una alta variabilidad genética lo cual es muy importante para futuros programas de conservación y mejoramiento genético.

Resumo Antecedentes: as raças crioulas, devido a sua seleção natural em ambientes hostis e adaptação às condições regionais, são importantes para os agricultores de poucos recursos econômicos. Porém, na Colômbia, devido ao cruzamento indiscriminado com raças estrangeiras e a falta de controle na reprodução, tem aumentado a consanguinidade nas populações de ovinos crioulos e por tanto tem gerado perda na produtividade, o que faz supor um grande risco para a conservação de genes valiosos. Objetivo: determinar a diversidade genética em raças crioulas colombianas utilizando um painel de 10 marcadores moleculares microssatélites. Métodos: visitaram-se 43 granjas localizadas em 11 departamentos do país, nos quais foram amostrados 362 indivíduos, que foram genotipados e analisados para um painel de 10 marcadores microssatélites. Resultados: um total de 134 alelos foram encontrados (média de 13,4 alelos/locus), com um rango de heterocigocidade observada e esperada de 0,428 a 0,831 e 0,615 a 0,855, respectivamente, e um conteúdo de informação polimórfica (PIC) médio de 0,742. O Wright F-statistics (FIS) médio das raças avaliadas foi de 0,107, o qual sugere que as raças apresentam níveis moderados de consanguinidade. As ovelhas colombianas apresentaram um baixo grau de diferenciação genética entre as diferentes raças (FST = 0,054) e o análise de STRUCTURE mostrou complexos patrões de mistura nas raças estudadas. Conclusão: em termos gerais, as ovelhas colombianas apresentaram uma alta variabilidade genética, o qual é muito importante para futuros programas de conservação e melhoramento genético.

Lack of Association between Recurrent Pregnancy Loss and Inherited Thrombophilia in a Group of Colombian Patients.

Studies have shown an association between recurrent pregnancy loss and inherited thrombophilia in Caucasian populations, but there is insufficient knowledge concerning triethnic populations such as the Colombian. The aim of this study was to evaluate whether inherited thrombophilia is associated with recurrent pregnancy loss. Methods. We conducted a case-control study of 93 patients with recurrent pregnancy loss (cases) and 206 healthy multiparous women (controls) in a Colombian subpopulation. Three single nucleotide polymorphisms (SNPs) markers of the inherited thrombophilias factor V Leiden, prothrombin G20210A, and methylenetetrahydrofolate reductase C677T were genotyped by PCR-RFLP. Activated protein C resistance and plasma levels of antithrombin, protein C, and protein S were also measured. Results. The frequency of thrombophilia-associated SNPs, activated protein C resistance, and anticoagulant protein deficiencies, was low overall, except for the methylenetetrahydrofolate reductase C677T SNP. The differences between patients and controls had no statistical significance. Conclusion. Our study confirms the low prevalence of inherited thrombophilias in non-Caucasian populations and it is unlikely that the tested thrombophilias play a role in the pathogenesis of recurrent pregnancy loss in this Colombian population.

The first homozygous family for prothrombin G20210A polymorphism reported in Latin America.

The 20210A allele of the prothrombin gene is associated with increased risk of venous thromboembolism. In this study, we described manifestations of thrombosis in four generations of a Colombian family, with four 20210A homozygous carriers and six 20210G/A heterozygous carriers for polymorphism as well as unrelated participants from the same population. The levels of prothrombin in the 20210A homozygote patients were higher than in the normal 20210G homozygotes (133 + 11% and 92.3 + 12.4%, respectively, P < .01) and the 20210G/A heterozygotes (133 + 11% vs. 114.8 + 24%, P < .05). About 2 out of 4 20210A homozygotes and 5 out of 6 20210G/A heterozygous members of this family did not have venous thromboembolism or any other thrombotic manifestation even though one of them had been exposed to thrombotic risk factors. Thus, we posit the effect of 20210A on the thrombotic phenotype in this family seems to be weak.

Molecular cloning, expression analysis and chromosome localization of the Tpt1 gene coding for the pig translationally controlled tumor protein (TCTP).

This work describes the cloning and structural analysis of a Tpt1 cDNA coding for the porcine translationally controlled tumor protein (TCTP) molecule and its expression in porcine cells and tissues. Pig Tpt1 cDNA is 842-pb long that displays typical features of translationally controlled mRNAs, including a 5'-UTR containing a 5'-terminal oligopyrimidine tract (5'-TOP), and a 3'-UTR with a high CG-content and one AU rich element (ARE). Both 5'-UTR and 3'-UTR are highly conserved when they are compared with those of other mammals. The pig Tpt1 cDNA contains a 516-b open reading frame that encodes a predicted TCTP protein composed of 172 amino acids that exhibits extensive conservation compared with TCTP sequences from other species and a common structural feature with all the other TCTP proteins analyzed in mammals. Expression analysis demonstrated that Tpt1 mRNA is ubiquitously expressed in normal porcine tissues and cells, showing a higher expression in spleen, lymph nodes and lung, and a lower one in skin and heart. The pig Tpt1 gene localizes on the porcine chromosome 11, region p11.