Search results for "mutation."
showing 10 items of 2808 documents
Chromatin structure influences rate and spectrum of spontaneous mutations in Neurospora crassa
2023
While mutation rates have been extensively studied, variation in mutation rates throughout the genome is poorly understood. To understand patterns of genetic variation, it is important to understand how mutation rates vary. Chromatin modifications may be an important factor in determining variation in mutation rates in eukaryotic genomes. To study variation in mutation rates, we performed a mutation accumulation experiment in the filamentous fungus Neurospora crassa, and sequenced the genomes of the 40 MA lines that had been propagated asexually for approximately 1015 [1003, 1026] mitoses. We detected 1322 mutations in total, and observed that the mutation rate was higher in regions of low …
Tras la pista del VIH: los estudios evolutivos y la comprensión del sida.
2013
El VIH o virus de la inmunodeficiencia humana tiene un gran impacto sanitario, social y económico; las terapias actuales permiten controlar la infección pero no se ha encontrado tratamiento curativo ni vacuna efectiva. Para conseguir estos objetivos, debe tenerse en cuenta la gran variabilidad genética y rápida evolución del VIH, asociadas, por ejemplo, a la aparición de variantes de resistencia a fármacos o de cambios antigénicos.
El cuerpo materno en la red: entre el orden de lo ?deseable? y el de lo real
2019
El estilo de vida fitness se realiza en, y a través de, un entramado subjetivo y de poder en el que circulan y se ensamblan dispositivos empresariales, terapéuticos, sanitarios y de espectacularización de los cuerpos, tendientes a inscribir la vida de la población en las tramas conflictivas de un capitalismo heterosexista, neoliberal e informacional. En dicho marco, la temporalidad, metamorfosis y plasticidad del cuerpo materno irrumpe como problema y objeto de intervención de tecnologías diversas orientadas a ajustar su tamaño, forma y devenir a los parámetros de la vida activa y saludable. En escenarios digitales, dicha tensión se materializa, por un lado, a través de dispositivos visuale…
Dynamics and toxicity of proteins with a high homology of sequences: approach by molecular dynamics and ab-initio calculations
2008
The elucidation of the structure and the biological function of proteins is a major stake for its implications in the biomedical research as well as in biotechnologies. In addition, there is a glass or dynamical transition for the proteins which occurs at around 200K: it has been observed by Neutron Scattering, X-ray diffraction and Mossbauer spectroscopy for different proteins. Above the transition temperature, the biological function is activated as the protein may diffuse between conformational sub-states. The microscopic origin of this transition is still debated in spite of significant advances in recent years showing the significant role of hydration. By using all-atoms classical mole…
Analysis of pteridines in Pyrrhocoris apterus (L.) (Heteroptera, Pyrrhocoridae) during development and in body-color mutants
1997
By using thin-layer chromatography (TLC) and high-performance liquid chromatography (HPLC), five different pteridines have been quantified in extracts from Pyrrhocoris apterus: neopterin, isoxanthopterin, isoxantholumazine (violapterin), 7-methylxanthopterin, and erythropterin. Biopterin was also detected using HPLC. Pteridines have been analyzed separately in bodies and eyes of the wild type regarding developmental stage and sex. The pteridine content in both bodies and eyes increased from nymphs to 2-day-old adults. After this period, the concentration of pteridines in the eyes of adults remained approximately constant, while in the bodies isoxantholumazine, 7-methylxanthopterin, and isox…
A novel splice acceptor site mutation in the ATP2A2 gene in a family with Darier disease
2016
This study identifies a novel spice site mutation in the ATP2A gene in a family with the Darier disease
Pigment patterns in mutants affecting the biosynthesis of pteridines and xanthommatin in Drosophila melanogaster.
1986
Eye-color mutants of Drosophila melanogaster have been analyzed for their pigment content and related metabolites. Xanthommatin and dihydroxanthommatin (pigments causing brown eye color) were measured after selective extraction in acidified butanol. Pteridines (pigments causing red eye color) were quantitated after separation of 28 spots by thin-layer chromatography, most of which are pteridines and a few of which are fluorescent metabolites from the xanthommatin pathway. Pigment patterns have been studied in 45 loci. The pteridine pathway ramifies into two double branches giving rise to isoxanthopterin, “drosopterins,” and biopterin as final products. The regulatory relationship among the …
Stable polymorphism for mutant eye colour geues in populations of Drosophila melanogaster in two different media
1988
In previous work analyzing variability of eye colour alleles existing in natural populations of D. melanogaster, it was observed that the number of females heterozygous for some eye colour alleles was greater in a wine cellar population than in populations outside this cellar. In order to determine which mechanisms caused these eye colour alleles to be favored in the heterozygotes, the changes in the frequency of four eye colour alleles frequently seen in the cellar population (se77o, sf77m, cd77o and multichromosomal 77o) was studied in artificial populations. Two different culture media, one supplemented with 10% ethanol and the other without ethanol were used. It was found that each of t…
Impaired crypsis of fish infected with a trophically transmitted parasite
2005
Trophically transmitted parasites may enhance their transmission by altering the phenotype of infected hosts to increase their vulnerability to predation by the next hosts in the life cycle. In an experimental study, we investigated whether the parasite Diplostomum spathaceum (Trematoda) alters cryptic coloration and cryptic behaviour of infected rainbow trout, Oncorhynchus mykiss, so that they would be more conspicuous to avian predators. The parasite reduces the vision of fish by lodging in the eyes and inducing cataract formation, which gives it an opportunity to affect fish crypsis. We examined the effect of the parasite on the ability of fish to adjust their coloration to the environme…
A luminal glycoprotein drives dose-dependent diameter expansion of the Drosophila melanogaster hindgut tube
2012
An important step in epithelial organ development is size maturation of the organ lumen to attain correct dimensions. Here we show that the regulated expression of Tenectin (Tnc) is critical to shape the Drosophila melanogaster hindgut tube. Tnc is a secreted protein that fills the embryonic hindgut lumen during tube diameter expansion. Inside the lumen, Tnc contributes to detectable O-Glycans and forms a dense striated matrix. Loss of tnc causes a narrow hindgut tube, while Tnc over-expression drives tube dilation in a dose-dependent manner. Cellular analyses show that luminal accumulation of Tnc causes an increase in inner and outer tube diameter, and cell flattening within the tube wall,…