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Selected AbstractsOxidative effects in uninfected tissue in leaves of French bean (Phaseolus vulgaris) containing soft rots caused by Botrytis cinereaJOURNAL OF THE SCIENCE OF FOOD AND AGRICULTURE, Issue 6 2003Ingo Muckenschnabel Abstract Several markers of oxidative processes have been measured in leaves of Phaseolus vulgaris infected with Botrytis cinerea, with the specific objective of investigating changes induced by this necrotrophic pathogen in tissue remote from the lesion. There was a progressive decrease with time in the contents of ascorbic acid (AA) in apparently healthy tissues from infected plants and non-inoculated plants grown under identical high-humidity conditions (abiotically stressed controls), and for periods >48 h this decrease was greater in the infected plants. This decline in AA content was accompanied by an elevation in the intensity of the electron paramagnetic resonance (EPR) signal from adducts of the spin trap ,-(4-pyridyl-1-oxide)- N - t -butylnitrone (POBN), a destabilisation of the (monodehydro) ascorbate radical (Asc·) signal in the presence of POBN, and an increase in the ratio of Asc· to AA in samples studied in the absence of the spin trap. These results are consistent with a shift in redox status to more oxidising conditions in apparently healthy tissue of infected plants and indicate the prevalence of chemical processes that are distinctly different from those in uninfected plants. However, no differences in lipid peroxidation products or the single-peak free radical and Fe(III) (g = 4.27) EPR signals were observed between these tissues distant from the lesions and those from abiotically stressed controls. In addition, the pathogen-derived sesquiterpene toxin botrydial and a second Mn(II) EPR signal, both of which are associated with Botrytis infection, were not detected in these ,apparently healthy' tissues. Copyright © 2003 Society of Chemical Industry [source] Localizing the X-linked orange colour phenotype using feline resource familiesANIMAL GENETICS, Issue 1 2005R. A. Grahn Summary Many genes influencing mammalian coat colours are well conserved. While genes responsible for pelage phenotypes in one species provide strong evidence for a candidate gene in a different species, the X-linked orange phenotype of the domestic cat is unique within mammals. The orange locus (O) undergoes X-inactivation, producing females that express both wildtype black (wt) and orange (variant) phenotypes when heterozygous (tortoiseshell). The orange locus has not yet been localized on the X chromosome. Tortoiseshell male cats have been identified but have been shown to be sex chromosome trisomies (XXY). To localize the cat orange locus, 10 feline-derived X-linked microsatellites were analysed in two extended cat pedigrees consisting of 79 and 55 individuals, respectively, segregating for the orange phenotype. Linkage analyses excluded close association of orange in the vicinity of the nine informative X-linked microsatellites. One marker was not polymorphic within either family. Several markers suggested exclusion (Z < ,2.0) at distances of 7.5,33 cM. Exclusion analyses suggested a possible location for orange a 14 cM region near Xcen. Recombination distances of markers in the segregating feline pedigrees were reduced as compared with the feline interspecies backcross family. Thus, the presented pedigrees may be useful as reference families for the domestic cat because more accurate recombination rates for domestic cats can be determined. [source] SNP Haplotypes in the Angiotensin I-Converting Enzyme (ACE) Gene: Analysis of Nigerian Family Data Using Gamete Competition ModelsANNALS OF HUMAN GENETICS, Issue 2 2005C. A. McKenzie Summary Gamete competition models were used to explore the relationships between 13 ACE gene polymorphisms and plasma ACE concentration in a set of Nigerian families. Several markers in the 5, and 3, regions of the gene were significantly associated with ACE concentration (P < 10 -4). Multi-locus genotypes comprising different combinations of markers from the 5, UTR and the 3, region of the gene were also analysed; in addition to G2350A, in the 3, region, two markers from the 5, UTR (A-5466C and A-240T) were found to be associated with ACE concentration. These results are consistent with reports that have suggested the presence of at least two ACE-linked QTLs, and demonstrate the utility of gamete competition models in the exploratory investigation of the relationship between a quantitative trait and multiple variants in a small genomic region. [source] Bmp2 is required for migration but not for induction of neural crest cells in the mouseDEVELOPMENTAL DYNAMICS, Issue 9 2007Ana Catarina Correia Abstract Bone morphogenetic protein (BMP) signaling is essential for neural crest development in several vertebrates. Genetic experiments in the mouse have shown that Bmp2 is essential for the genesis of migratory neural crest cells. Using several markers and a transgenic reporter approach, we now show that neural crest cells are induced in Bmp2 null mutant embryos, but that these cells fail to migrate out of the neural tube. The absence of migratory neural crest cells in these mutants is not due to their elimination by cell death. The neuroectoderm of Bmp2,/, embryos fail to close and create abnormal folds both along the anterior,posterior and medio,lateral axes, which are associated with an apparent medio,lateral expansion of the neural tube. Finally, our data suggest that the molecular cascade downstream of BMP signaling in early neural crest development may be different in mouse and avian embryos. Developmental Dynamics 236:2493,2501, 2007. © 2007 Wiley-Liss, Inc. [source] Genotype-phenotype analysis in childhood-onset Crohn's disease: NOD2/CARD15 variants consistently predict phenotypic characteristics of severe diseaseINFLAMMATORY BOWEL DISEASES, Issue 11 2005Richard K Russell Abstract Introduction: The incidence of early-onset CD in Scotland is among the highest worldwide. Three single nucleotide polymorphisms (SNPs) R702W, G908R and Leu1007finsC in the NOD2/CARD15 gene predispose to adult CD. We investigated the contribution of these variants to disease susceptibility and phenotype in the Scottish early-onset IBD population. Patients and Methods: 906 individuals including 247 Scottish IBD patients aged <16 years at diagnosis, 414 parents and 245 controls were genotyped. Transmission disequilibrium testing (TDT), case-control analysis and detailed genotype-phenotype analysis were performed. Results: The Leu1007finsC variant was associated with susceptibility to CD by case-control (4.2% versus. 1.4%, P = 0.01) and TDT analysis (P = 0.006). The Population Attributable Risk (PAR) for the 3 NOD2/CARD15 mutations was 7.9%. Carriage of NOD2/CARD15 variants was associated with, at diagnosis: decreased albumin (31.0% versus. 9.0%, P = 0.001) and raised CRP (25% versus. 9.5%, P = 0.04) and at follow up: need for surgery (39.5% versus. 12.8%, P = 0.0002) jejunal involvement (50% versus. 18.4%, P = 0.01) jejunal and ileal involvement (50% versus. 10.7%, P = 0.009), raised CRP (57.1% and 12.8%, P = 0.0009), lower weight/height centile (75.0% versus. 20.2%, P = 0.03, 50.0% versus. 16.0%, P = 0.001 respectively) and stricturing disease (45.5% versus. 19.4%, P < 0.05). Multifactorial analysis demonstrated carriage was associated with need for surgery (P = 0.004, OR 4.9 [1.5-14.7]). Conclusions: These NOD2/CARD 15 variants in the Scottish early onset CD population have a definite, albeit relatively small contribution to CD susceptibility (PAR 7.9%) but a major impact on phenotype. In particular NOD2/CARD15 variants are strongly associated with several markers of disease severity in pediatric CD, notably need for surgery. [source] Disease Status in Autosomal Dominant Osteopetrosis Type 2 Is Determined by Osteoclastic Properties,JOURNAL OF BONE AND MINERAL RESEARCH, Issue 7 2006Kang Chu Abstract Asymptomatic gene carriers and clinically affected ADO2 subjects have the same ClCN7 mutation. We examined osteoclastic bone resorption in vitro as well as osteoclast formation, several markers, acid secretion, and cytoskeletal structure. We found that ADO2 expression results from osteoclast specific properties. Introduction: Autosomal dominant osteopetrosis type II (ADO2) is a heritable osteosclerotic disorder that results from heterozygous mutations in the ClCN7 gene. However, of those individuals with a ClCN7 mutation, one third are asymptomatic gene carriers who have no clinical, biochemical, or radiological manifestations. Disease severity in the remaining two thirds is highly variable. Materials and Methods: Human peripheral blood mononuclear cells were isolated and differentiated into osteoclasts by stimulation with hRANKL and human macrophage-colony stimulating factor (hM-CSF). Study subjects were clinically affected subjects, unaffected gene carriers, and normal controls (n = 6 in each group). Pit formation, TRACP staining, RANKL dose response, osteoclast markers, acid secretion, F-actin ring, and integrin ,v,3 expression and co-localization were studied. Results: Osteoclasts from clinically affected subjects had severely attenuated bone resorption compared with those from normal controls. However, osteoclasts from unaffected gene carriers displayed similar bone resorption to those from normal controls. In addition, the resorption lacunae from both unaffected gene carriers and normal controls appeared much earlier and spread much more rapidly than those from clinically affected subjects. As time progressed, the distinction between clinically affected subjects and the other two groups increased. No significant difference was found in acidic secretion or osteoclast formation between the three groups. Osteoclast cytoskeletal organization showed no difference between the three groups but there was low cellular motility in clinically affected subjects. Conclusions: Osteoclasts from the unaffected gene carriers, in contrast to those from the clinically affected subjects, functioned normally in cell culture. This finding supports the hypothesis that intrinsic osteoclast factors determine disease expression in ADO2. Further understanding of this mechanism is likely to lead to the development of new approaches to the treatment of clinically affected patients. [source] Inflammatory bio-markers and cardiovascular risk predictionJOURNAL OF INTERNAL MEDICINE, Issue 4 2002G. J. Blake Abstract.,Blake GJ, Ridker PM (Harvard Medical School, Boston, MA, USA). Inflammatory bio-markers and cardiovascular risk prediction (Review). J Intern Med 2002; 252: 283,294. Inflammatory processes are now recognized to play a central role in the pathogenesis of atherosclerosis and its complications. Plasma levels of several markers of inflammation have been found to be associated with future cardiovascular risk in a variety of clinical settings. These markers include cell adhesion molecules, cytokines, pro-atherogenic enzymes and C-reactive protein (CRP). Initially thought of as an inactive downstream marker of the inflammatory cascade, emerging evidence suggests that CRP may be directly involved in atherogenesis, and that arterial plaque can produce CRP, independent of traditional hepatic pathways. In addition to being a strong predictor of future cardiovascular risk amongst patients presenting with acute coronary syndromes, numerous studies have found that baseline levels of CRP are associated with risk of future myocardial infarction, stroke, peripheral vascular disease and cardiovascular death amongst apparently healthy populations. The combination of measurement of a marker of inflammation with lipid testing may improve upon risk stratification based on lipid testing alone, and intensification of programmes for exercise, weight loss, and smoking cessation is recommended for those with elevated CRP levels. Further trials are needed to confirm the potential benefits of statins amongst individuals with elevated CRP levels. [source] Differential regulation of immune responses by odontoblastsMOLECULAR ORAL MICROBIOLOGY, Issue 1 2007O. Veerayutthwilai Odontoblasts (OBs) are cells lining the inner surface of the tooth. Their potential role in host defenses within the tooth is suggested by their production of antimicrobial , -defensins, but their role needs confirmation. The present study sought to define the roles of human OBs in microbial recognition and innate host responses. Toll-like receptor 2 (TLR2) and TLR4, as well as CCR6, were immunolocalized in human OBs and their dentinal processes in situ. To examine OB function we used organotypic tooth crown cultures to maintain human OBs within their dentin scaffold. Cells in the OB layer of cultured and non-cultured crown preparations expressed mRNA for several markers of innate immunity including chemokine CCL20, chemokine receptor CCR6, TLR2, TLR4 and the OB marker dentin sialophosphoprotein (DSPP). Expression of human , -defensin 1 (hBD1), hBD2, hBD3, interleukin-8 (IL-8), and CCL20 increased with time in culture. Tooth crown odontoblast (TcOB) cultures were stimulated with agonist that was specific for TLR2 (Pam3CSK4) or TLR4 [Escherichia coli lipopolysaccharide (LPS)]. Nuclear factor- ,B assays confirmed the TLR2 activity of Pam3CSK4 and the TLR4 activity of LPS. LPS up-regulated IL-1,, tumor necrosis factor- , (TNF- ,), CCL20, hBD2, IL-8, TLR2 and TLR4; however, Pam3CSK4 down-regulated these mRNAs. IL-1,, TNF- ,, CCL20 were also up-regulated from six-fold to 30-fold in TcOB preparations from decayed teeth. Our results show for the first time that OBs express microbial pattern recognition receptors in situ, thus allowing differential responses to gram-positive and gram-negative bacteria, and suggest that pro-inflammatory cytokines and innate immune responses in decayed teeth may result from TLR4 signaling. [source] Leg length and age of puberty among men and women from a developing population: The Guangzhou Biobank Cohort studyAMERICAN JOURNAL OF HUMAN BIOLOGY, Issue 5 2010C.M. Schooling Objectives: Leg length and relative leg length are considered to be reliable markers of prepubertal living conditions. Cessation of leg growth, driven by estrogen, occurs earlier in puberty in girls than boys. We hypothesized that leg length and relative leg length, as sitting height to leg ratio, might have sex-specific associations with age of puberty. Methods: We used multivariable linear regression in 10,046 older (,50 years) Chinese from the Guangzhou Biobank Cohort Study (Phase 3) to examine the associations of recalled age of puberty (women: age of menarche, and men: mean age of first nocturnal emission, voice breaking, and first pubic hair) with subischeal leg length, sitting height to leg ratio, and sitting height. Results: Leg length and sitting height to leg ratio had different associations with age of puberty in men and women (P -values for interaction <0.001), but sitting height did not. Per year earlier puberty, legs were longer among men by 0.09 cm (95% confidence interval (CI) 0.01,0.18) and shorter among women by ,0.16 cm (95% CI ,0.20 to ,0.12). Further adjustment for age, hip size (as a marker of buttock fat), and several markers of childhood conditions did not obviate the difference in association by sex. Conclusions: Adult leg length and relative leg length (sitting height to leg ratio) may be biomarkers of different exposures in men and women, with corresponding implications for their interpretation as a biomarker of early life exposures. Am. J. Hum. Biol. 22:683,687, 2010. © 2010Wiley-Liss, Inc. [source] Intraspecific olive diversity assessed with AFLPPLANT BREEDING, Issue 2 2003F. Sanz-Cortés Abstract Amplified fragment length polymorphism (AFLP) was used to study diversity within and among Spanish olive varieties. A high degree of diversity was found among the varieties present in each growing region. Olive oil production and quality relies on appropriate cultivar selection as well as good orchard management. Production based only on a few superior cultivars would result in improved yield, oil quality, and production management. Amplified fragment length polymorphism were evaluated as a tool to identify the intraspecific and intravarietal diversity of olive. Amplified fragment length polymorphism analysis of 38 accessions belonging to 10 cultivars using six primer combinations produced 106 polymorphic bands. Results were analyzed for similarity among accessions via unweighted pair-group means cluster analysis, resulting in 10 clusters corresponding to named variety designations. Similarity among varieties ranged from 0.60 to 0.72. Diversity within varieties was identified. Similarity within named varieties (accessions with the same varietal name) ranged from 0.75 to 0.96. Differences in several markers were found among 34 accessions. Intravarietal diversity was shown to exist within the Spanish olive varieties grown in the region surrounding Valencia. [source] Wounding induces resistance to pathogens with different lifestyles in tomato: role of ethylene in cross-protectionPLANT CELL & ENVIRONMENT, Issue 11 2007DORIANA FRANCIA ABSTRACT Many reports point to the existence of a network of regulatory signalling occurring in plants during the interaction with micro-organisms (biotic stress) and abiotic stresses such as wounding. However, the focus is on shared intermediates/components and/or common molecular outputs in differently triggered signalling pathways, and not on the degree and modes of effective influence between abiotic and biotic stresses nor the range of true plant,pathogen interactions open to such influence. We report on local and systemic wound-induced protection in tomato (Solanum lycopersicum L.) to four pathogens with a range of lifestyles (Botrytis cinerea, Fusarium oxysporum f.sp. lycopersici, Phytophthora capsici and Pseudomonas syringae pv. tomato). The role of ethylene (ET) in the phenomenon and in the induction by wounding of several markers of defense was investigated by using the never-ripe tomato mutant plants impaired in ET perception. We showed that PINIIb, PR1b, PR5, PR7 and peroxidase (POD) are influenced locally and/or systemically by wounding and, with the exception of POD activity, by ET perception. We also demonstrated that ET, although not essential, is positively (B. cinerea, P. capsici) or negatively (F. oxysporum, P. syringae pv. tomato) involved not only in basal but also in wound-induced resistance to each pathogen. [source] Mapping of a Gene for Alopecia with Mental Retardation Syndrome (APMR3) on Chromosome 18q11.2-q12.2ANNALS OF HUMAN GENETICS, Issue 5 2007A. Wali Summary Alopecia with mental retardation syndrome (APMR) is a rare autosomal recessive disorder characterized by total or partial absence of hair from the scalp and other parts of the body and associated with mental retardation. Previously, we have reported the mapping of two alopecia and mental retardation genes (APMR1 and APMR2) on human chromosome 3. In the present study, after excluding both of these loci through linkage analysis, a whole genome scan was performed by genotyping 396 polymorphic microsatellite markers located on 22 autosomes and the X and Y chromosomes. A disease locus was mapped to a 10.9 cM region, flanked by markers D18S866 and D18S811, on chromosome 18q11.2,q12.2. A maximum two-point LOD score of 3.03 at ,= 0.0 was obtained with marker D18S1102. Multipoint linkage analysis resulted in maximum LOD scores of 4.03 with several markers in the candidate region. According to the Rutgers combined linkage-physical map of the human genome (build 36) this region covers 12.17 Mb. DNA sequence analysis of nine candidate genes including DSC3, DSC1, DSG1, DSG4, DSG3, ZNF397, ZNF271, ZNF24 and ZNF396 did not reveal any sequence variants in the affected individuals of the family presented here. [source] A novel locus for alopecia with mental retardation syndrome (APMR2) maps to chromosome 3q26.2-q26.31CLINICAL GENETICS, Issue 3 2006A Wali Congenital alopecia may occur either alone or in association with ectodermal and other abnormalities. On the bases of such associations, several different syndromes featuring congenital alopecia can be distinguished. Alopecia with mental retardation syndrome (APMR) is a rare autosomal recessive disorder, clinically characterized by total or partial hair loss and mental retardation. In the present study, a five-generation Pakistani family with multiple affected individuals with APMR was ascertained. Patients in this family exhibited typical features of APMR syndrome. The disease locus was mapped to chromosome 3q26.2-q26.31 by carrying out a genome scan followed by fine mapping. A maximum two-point logarithm of odds (LOD) score of 2.93 at ,= 0.0 was obtained at markers D3S3053 and D3S2309. Multipoint linkage analysis resulted in a maximum LOD score of 4.57 with several markers, which supports the linkage. The disease locus was flanked by markers D3S1564 and D3S2427, which corresponds to 9.6-cM region according to the Rutgers combined linkage-physical map of the human genome (build 35) and contains 5.6 Mb. The linkage interval of the APMR locus identified here does not overlap with the one described previously; therefore, this locus has been designated as APMR2. [source] |