Search results for "Allele"
showing 10 items of 1006 documents
Evidence for Natural Horizontal Transfer of the pcpB Gene in the Evolution of Polychlorophenol-Degrading Sphingomonads
2002
ABSTRACT The chlorophenol degradation pathway in Sphingobium chlorophenolicum is initiated by the pcpB gene product, pentachlorophenol-4-monooxygenase. The distribution of the gene was studied in a phylogenetically diverse group of polychlorophenol-degrading bacteria isolated from contaminated groundwater in Kärkölä, Finland. All the sphingomonads isolated were shown to share pcpB gene homologs with 98.9 to 100% sequence identity. The gene product was expressed when the strains were induced by 2,3,4,6-tetrachlorophenol. A comparative analysis of the 16S rDNA and pcpB gene trees suggested that a recent horizontal transfer of the pcpB gene was involved in the evolution of the catabolic pat…
Molecular polymorphism of the ABO blood group: A study in Poland, Spain, and Andorra
2014
Objectives The main goal of this study is to increase knowledge on the molecular level of the ABO blood group system in Europe by providing data for Poland, Spain, and Andorra populations. Methods A total of 172 oral scrapings samples from individuals of Polish origin, 108 peripheral blood samples of autochthonous individuals from the province of Zamora (Spain), and 81 peripheral blood samples from individuals with Andorran origin, were analyzed. Molecular characterization of the allelic variants was performed by the analysis of exons 6 and 7 of the ABO gene. Results Seven common alleles were identified, namely: A101, A102, A201, B101, O01, O02, and O03. Less common variants (O05, O09, O21,…
Single nucleotide polymorphisms of the vascular endothelial growth factor gene associated with incidence of oral squamous cell carcinoma
2010
J Oral Pathol Med (2010) 39: 786–792 Background: Vascular endothelial growth factor (VEGF) plays an important role in promoting angiogenesis and is overexpressed in several malignancies. Polymorphisms of the VEGF gene can alter VEGF protein expression, which may be biologically significant and account for heterogeneity in disease risk and outcome. The aim of this case–control study was to evaluate potential associations between single nucleotide polymorphisms (SNP) of the VEGF gene with susceptibility of oral squamous cell carcinoma (OSCC). Patients and methods: Five VEGF SNP (−1154 G/A, +405 G/C, +936 C/T, −2578 C/A and −460 C/T) were determined in peripheral blood isolated from 80 patie…
The polygenic nature of hypertriglyceridaemia: implications for definition, diagnosis, and management.
2014
Item does not contain fulltext Plasma triglyceride concentration is a biomarker for circulating triglyceride-rich lipoproteins and their metabolic remnants. Common mild-to-moderate hypertriglyceridaemia is typically multigenic, and results from the cumulative burden of common and rare variants in more than 30 genes, as quantified by genetic risk scores. Rare autosomal recessive monogenic hypertriglyceridaemia can result from large-effect mutations in six different genes. Hypertriglyceridaemia is exacerbated by non-genetic factors. On the basis of recent genetic data, we redefine the disorder into two states: severe (triglyceride concentration >10 mmol/L), which is more likely to have a mono…
Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.
2013
International audience; Using the ImmunoChip custom genotyping array, we analyzed 14,498 subjects with multiple sclerosis and 24,091 healthy controls for 161,311 autosomal variants and identified 135 potentially associated regions (P < 1.0 × 10(-4)). In a replication phase, we combined these data with previous genome-wide association study (GWAS) data from an independent 14,802 subjects with multiple sclerosis and 26,703 healthy controls. In these 80,094 individuals of European ancestry, we identified 48 new susceptibility variants (P < 5.0 × 10(-8)), 3 of which we found after conditioning on previously identified variants. Thus, there are now 110 established multiple sclerosis risk variant…
IL12A, MPHOSPH9/CDK2AP1 and RGS1 are novel multiple sclerosis susceptibility loci
2010
A recent meta-analysis identified seven single-nucleotide polymorphisms (SNPs) with suggestive evidence of association with multiple sclerosis (MS). We report an analysis of these polymorphisms in a replication study that includes 8,085 cases and 7,777 controls. A meta-analysis across the replication collections and a joint analysis with the discovery data set were performed. The possible functional consequences of the validated susceptibility loci were explored using RNA expression data. For all of the tested SNPs, the effect observed in the replication phase involved the same allele and the same direction of effect observed in the discovery phase. Three loci exceeded genome-wide significa…
Major Histocompatibility Complex Class I Allele-specific Cooperative and Competitive Interactions between Immune Evasion Proteins of Cytomegalovirus
2002
Cytomegaloviruses (CMVs) deploy a set of genes for interference with antigen presentation in the major histocompatibility complex (MHC) class I pathway. In murine CMV (MCMV), three genes were identified so far: m04/gp34, m06/gp48, and m152/gp40. While their function as immunoevasins was originally defined after their selective expression, this may not necessarily reflect their biological role during infection. The three immunoevasins might act synergistically, but they might also compete for their common substrate, the MHC class I complexes. To approach this question in a systematic manner, we have generated a complete set of mutant viruses with deletions of the three genes in all seven pos…
Effects of tumor mutation burden on the antigen presentation pathway
2021
AbstractTumor mutation burden (TMB) is used to select patients to receive immune checkpoint inhibitors (ICIs) but has mixed predictive capabilities. We hypothesized that inactivation of antigen presenting genes (APGs) that result from increased TMBs would result in inherent resistance to ICIs. We observed that somatic mutations in APGs were associated with increasing TMBs across 9,418 tumor samples of 33 different histological subtypes. In adenocarcinomas of the lung, ITGAX and CD1B were some of the most commonly mutated APGs. In 62 patients with non-small cell lung cancers treated with a PD-1 inhibitor in second or later lines of therapy, there was an association of increased TMB with muta…
Chloroplast DNA and isozyme analysis of the progenitor-derivative species relationship between Senecio nebrodensis and S. viscosus (Asteraceae )
1995
A comparison of chloroplast DNA (cpDNA) and isozyme diversity in Senecio nebrodensis L., a species restricted to certain mountain ranges in Spain, and S. viscosus L., a widespread ruderal species in Europe, revealed that S. viscosus possessed the more common of two cpDNA haplotypes resolved in S. nebrodensis and contained only a small subset of the alleles found in S. nebrodensis at enzyme coding loci. The two species shared one restriction length mutation and one site mutation in their cpDNA, which distinguished them from other European Senecio species examined previously. Taken overall, these results support the hypothesis that S. nebrodensis and S. viscosus are related as a progenitor-de…
Reductive stress in pathophysiology
2017
Oxidative stress, as defined by Sies more than thirty years ago, has received much attention and has served as an important intellectual tool to understand the pathophysiology of many diseases and also of normal processes like ageing. However, recently the idea that the cells might suffer from reductive rather than oxidative stress and that such stress may be relevant in pathophysiology has gained momentum. Some time ago we defined reductive stress as a “as a pathophysiological situation in which the cell becomes more reduced than in the normal, resting state”. We postulated that reductive stress might be due, at least in part to a “small but persistent generation of oxidants that results i…