Search results for "MUTATION"
showing 10 items of 2830 documents
Absence of mutations in the WT1 gene in patients with XY gonadal dysgenesis
1995
The WT1 gene is normally expressed during gonadal development and specific mutations in heterozygous form cause Drash syndrome, characterized by male pseudohermaphroditism and gonadal dysgenesis, renal failure and a predisposition for Wilms' tumour. These observations prompted us to test whether WT1 mutations are involved in isolated gonadal dysgenesis, being the most severe form of disturbance in gonadal differentiation. We studied 27 cases of 46,XY females with gonadal dysgenesis who had previously been screened for and found not to carry SRY gene mutations. We performed mutational screening of the WT1 gene with denaturing gradient gel electrophoresis. In one of these patients, a heterozy…
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
BRCA1 and BRCA2 variants of uncertain clinical significance and their implications for genetic counseling
2009
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…