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Polymorphism and divergence at the prune locus in Drosophila melanogaster and D. simulans 总被引:3,自引:0,他引:3
The prune locus of Drosophila melanogaster lies at the tip of the X
chromosome, in a region of reduced recombination in which nearby loci show
reduced variation relative to evolutionary divergence from D. simulans. DNA
sequencing of prune alleles from D. melanogaster and D. simulans reveals
extremely low variation in D. melanogaster but greater variation in D.
simulans. Divergence between the two species is not reduced. This pattern
may be explained by either positive selection leading to hitchhiking of
neutral variation or background selection against deleterious mutations.
The pattern of silent versus replacement polymorphism and divergence at
prune is consistent with either a model of weakly deleterious selection
against amino acid substitutions or balancing selection.
相似文献
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Nicoline BM Voet Gijs Bleijenberg George W Padberg Baziel GM van Engelen Alexander CH Geurts 《BMC neurology》2010,10(1):56
Background
In facioscapulohumeral dystrophy (FSHD) muscle function is impaired and declines over time. Currently there is no effective treatment available to slow down this decline. We have previously reported that loss of muscle strength contributes to chronic fatigue through a decreased level of physical activity, while fatigue and physical inactivity both determine loss of societal participation. To decrease chronic fatigue, two distinctly different therapeutic approaches can be proposed: aerobic exercise training (AET) to improve physical capacity and cognitive behavioural therapy (CBT) to stimulate an active life-style yet avoiding excessive physical strain. The primary aim of the FACTS-2-FSHD (acronym for Fitness And Cognitive behavioural TherapieS/for Fatigue and ACTivitieS in FSHD) trial is to study the effect of AET and CBT on the reduction of chronic fatigue as assessed with the Checklist Individual Strength subscale fatigue (CIS-fatigue) in patients with FSHD. Additionally, possible working mechanisms and the effects on various secondary outcome measures at all levels of the International Classification of Functioning, Disability and Health (ICF) are evaluated.Methods/Design
A multi-centre, assessor-blinded, randomized controlled trial is conducted. A sample of 75 FSHD patients with severe chronic fatigue (CIS-fatigue ≥ 35) will be recruited and randomized to one of three groups: (1) AET + usual care, (2) CBT + usual care or (3) usual care alone, which consists of no therapy at all or occasional (conventional) physical therapy. After an intervention period of 16 weeks and a follow-up of 3 months, the third (control) group will as yet be randomized to either AET or CBT (approximately 7 months after inclusion). Outcomes will be assessed at baseline, immediately post intervention and at 3 and 6 months follow up.Discussion
The FACTS-2-FSHD study is the first theory-based randomized clinical trial which evaluates the effect and the maintenance of effects of AET and CBT on the reduction of chronic fatigue in patients with FSHD. The interventions are based on a theoretical model of chronic fatigue in patients with FSHD. The study will provide a unique set of data with which the relationships between outcome measures at all levels of the ICF could be assessed.Trial registration
Dutch Trial Register, NTR1447.65.
A cross-regulation between type I IFN and TNFα has been proposed recently, where both cytokines are hypothesized to counteract
each other. According to this model, different autoimmune diseases can be viewed as disequilibrium between both cytokines.
As this model may have important clinical implications, the present review summarizes and discusses the currently available
clinical evidence arguing for or against the proposed cross-regulation between TNFα and type I IFN. In addition, we review
how this cross-regulation works at the cellular and molecular levels. Finally, we discuss the clinical relevance of this proposed
cross-regulation for biological therapies such as type I IFN or anti-TNFα treatment. 相似文献
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Lisa GM van Baarsen Carla A Wijbrandts François Rustenburg Tineke Cantaert Tineke CTM van der Pouw Kraan Dominique L Baeten Ben AC Dijkmans Paul P Tak Cornelis L Verweij 《Arthritis research & therapy》2010,12(1):R11
Introduction
Cross-regulation between TNF and type I IFN has been postulated to play an important role in autoimmune diseases. Therefore, we determined the effect of TNF blockade in rheumatoid arthritis (RA) on the type I IFN response gene activity in relation to clinical response. 相似文献67.
Curbo S Lagier-Tourenne C Carrozzo R Palenzuela L Lucioli S Hirano M Santorelli F Arenas J Karlsson A Johansson M 《Genomics》2006,87(3):410-416
Pyrophosphatases (PPases) catalyze the hydrolysis of inorganic pyrophosphate generated in several cellular enzymatic reactions. A novel human pyrophosphatase cDNA encoding a 334-amino-acid protein approximately 60% identical to the previously identified human cytosolic PPase was cloned and characterized. The novel enzyme, named PPase-2, was enzymatically active and catalyzed hydrolysis of pyrophosphate at a rate similar to that of the previously identified PPase-1. A functional mitochondrial import signal sequence was identified in the N-terminus of PPase-2, which targeted the enzyme to the mitochondrial matrix. The human pyrophosphatase 2 gene (PPase-2) was mapped to chromosome 4q25 and the 1.4-kb mRNA was ubiquitously expressed in human tissues, with highest levels in muscle, liver, and kidney. The yeast homologue of the mitochondrial PPase-2 is required for mitochondrial DNA maintenance and yeast cells lacking the enzyme exhibit mitochondrial DNA depletion. We sequenced the PPA2 gene in 13 patients with mitochondrial DNA depletion syndromes (MDS) of unknown cause to determine if mutations in the PPA2 gene of these patients were associated with this disease. No pathogenic mutations were identified in the PPA2 gene of these patients and we found no evidence that PPA2 gene mutations are a common cause of MDS in humans. 相似文献
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In a recent paper written by Hilbe et al (BMC vet res, 2009), the nature and specificity of the prion protein deposition in
the kidney of feline species affected with feline spongiform encephalopathy (FSE) were clearly considered doubtful. This article
was brought to our attention because we published several years ago an immunodetection of abnormal prion protein in the kidney
of a cheetah affected with FSE. At this time we were convinced of its specificity but without having all the possibilities
to demonstrate it. As previously published by another group, the presence of abnormal prion protein in some renal glomeruli
in domestic cats affected with FSE is indeed generally considered as doubtful mainly because of low intensity detected in
this organ and because control kidneys from safe animals present also a weak prion immunolabelling. Here we come back on these
studies and thought it would be helpful to relay our last data to the readers of BMC Vet res for future reference on this
subject. 相似文献
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在研究转基因香石竹品系月之霓裳(Moonshade)、月之伊人(Moonlite)中外源基因F3’5’H的表达中,本文克隆了F3’5’H全长基因1.5kb,构建获得工程菌株Escherichia coli BL21(DE3)(+F3'5'H)。SDS-PAGE分析的结果显示,该菌株高效表达出F3’5’H重组蛋白,约占菌体总蛋白的30%。用经纯化的F3’5’H重组蛋白作为抗原,制备F3’5’H重组蛋白的抗血清,经ELISA免疫学分析表明,该抗血清的效价为1:25600。Western blot结果表明F3’5’H重组蛋白具有良好的IgG结合活性,且抗血清与转基因香石竹品系月之霓裳和月之伊人中的外源基因F3’5’H所表达的蛋白发生明显的抗原抗体反应。这样,月之霓裳和月之伊人用于评价转基因香石竹品系的环境安全性在我国也得到了验证。 相似文献