Regions of the genome influencing height and leaf area in seedlings of a three-generation outbred pedigree of Eucalyptus nitens have been identified. Three QTLs affecting height and two QTLs ...affecting leaf area were located using single-factor analysis of variance. The three QTLs affecting height each explained between 10.3 and 14.7% of the phenotypic variance, while the two QTLs for leaf area each explained between 9.8 and 11.6% of the phenotypic variation. Analysis of fully informative marker loci linked to the QTLs enabled the mode of action of the QTLs to be investigated. For three loci the QTL effect segregated from only one parent, while for two loci the QTL showed multiple alleles and the effect segregated from both parents in the pedigree. The two QTLs affecting leaf area were located in the same regions as two of the QTLs affecting height. Analysis of these regions with fully informative markers showed that both QTLs were linked to the same markers, but one had a similar size of effects and a similar mode of action for both height and leaf area, whilst the other showed a different mode of action for the two traits. These regions may contain two closely linked genes or may involve a single gene with a pleiotrophic effect on both height and leaf area. The QTL with the greatest effect showed multiple alleles and an intra-locus interaction that reduced the size of the effect. Assessment for two of the QTLs in a second related family did not show an effect associated with the marker loci; however, this was consistent with the mode of action of these QTLs and the pattern of inheritance in the second family.
Central corneal thickness (CCT) is a highly heritable trait associated with complex eye diseases such as keratoconus and glaucoma. We perform a genome-wide association meta-analysis of CCT and ...identify 19 novel regions. In addition to adding support for known connective tissue-related pathways, pathway analyses uncover previously unreported gene sets. Remarkably, >20% of the CCT-loci are near or within Mendelian disorder genes. These included FBN1, ADAMTS2 and TGFB2 which associate with connective tissue disorders (Marfan, Ehlers-Danlos and Loeys-Dietz syndromes), and the LUM-DCN-KERA gene complex involved in myopia, corneal dystrophies and cornea plana. Using index CCT-increasing variants, we find a significant inverse correlation in effect sizes between CCT and keratoconus (r = -0.62, P = 5.30 × 10
) but not between CCT and primary open-angle glaucoma (r = -0.17, P = 0.2). Our findings provide evidence for shared genetic influences between CCT and keratoconus, and implicate candidate genes acting in collagen and extracellular matrix regulation.
The neurobehavioral effects of inhaled cyclohexane in rats and humans are investigated to define relationships between internal doses and acute central nervous system effects. Rats are exposed for 3 ...consecutive days at target concentrations of 0, 1.4, 8, and 28 g/m3, 8 h/d. Measurements include standardized observational measures, spontaneous motor activity assessments, and learned visual discrimination performance. Cyclohexane concentrations in blood and brain are measured to assess internal exposure. Human volunteers are exposed for 4 hours to 86 or 860 mg/m3 in 2 test sessions. Neurobehavioral effects are measured using a computerized neurobehavioral test battery. In rats, there are slight reductions in psychomotor speed in the high-exposure group but minimal central nervous system effects. In humans, there are no significant treatment-related effects at the levels tested.
We followed-up with ESPRESSO the K0V star HIP 29442 (TOI-469), already known to host a validated sub-Neptune companion TOI-469.01. We aim to verify the planetary nature of TOI-469.01. We modelled ...radial velocity and photometric time series to measure the dynamical mass, radius, and ephemeris, and to characterise the internal structure and composition of TOI-469.01. We confirmed the planetary nature of TOI-469.01. Thanks to ESPRESSO we discovered two additional close-in companions. We also detected their low signal-to-noise transit signals in the TESS light curve. HIP 29442 is a compact multi-planet system, and the three planets have orbital periods \(P_{\rm orb, b}=13.63083\pm0.00003\), \(P_{\rm orb, c}=3.53796\pm0.00003\), and \(P_{\rm orb, d}=6.42975^{+0.00009}_{-0.00010}\) days, and we measured their masses with high precision: \(m_{\rm p, b}=9.6\pm0.8~M_{\oplus}\), \(m_{\rm p, c}=4.5\pm0.3~M_{\oplus}\), and \(m_{\rm p, d}=5.1\pm0.4~M_{\oplus}\). We measured radii and bulk densities of all the planets (the 3\(\sigma\) confidence intervals are shown in parenthesis): \(R_{\rm p, b}=3.48^{+0.07 (+0.19)}_{-0.08 (-0.28)} ~R_{\oplus}\) and \(\rho_{\rm p, b}=1.3\pm0.2 (0.3) g~cm^{-3}\); \(R_{\rm p, c}=1.58^{+0.10 (+0.30)}_{-0.11 (-0.34)}~R_{\oplus}\) and \(\rho_{\rm p, c}=6.3^{+1.7 (+6.0)}_{-1.3 (-2.7)} g~cm^{-3}\); \(R_{\rm p, d}=1.37\pm0.11^{(+0.32)}_{(-0.43)}~R_{\oplus}\) and \(\rho_{\rm p, d}=11.0^{+3.4 (+21.0)}_{-2.4 (-6.3)} g~cm^{-3}\). We used the more conservative 3\(\sigma\) confidence intervals for the radii as input to the interior structure modelling. We find that HIP 29442 \(b\) appears as a typical sub-Neptune, likely surrounded by a gas layer of pure H-He with a mass of \(0.27^{+0.24}_{-0.17} M_{\oplus}\) and a thickness of \(1.4\pm0.5 R_{\oplus}\). For the innermost companions HIP 29442 \(c\) HIP 29442 \(d\), the model supports an Earth-like composition.
The complete 1.66-megabase pair genome sequence of an autotrophic archaeon, Methanococcus jannaschii, and its 58- and 16-kilobase pair extrachromosomal elements have been determined by whole-genome ...random sequencing. A total of 1738 predicted proteincoding genes were identified; however, only a minority of these (38 percent) could be assigned a putative cellular role with high confidence. Although the majority of genes related to energy production, cell division, and metabolism in M. jannaschii are most similar to those found in Bacteria, most of the genes involved in transcription, translation, and replication in M. jannaschii are more similar to those found in Eukaryotes.
To evaluate the neurobehavioral effects of hydrocarbon solvents and to establish a working model for extrapolating animal test data to humans, studies were conducted which involved inhalation ...exposure of rats and humans to white spirit (WS). The specific objectives of these studies were to evaluate the behavioral effects of exposure to WS in rats and humans and to determine relationships between internal levels of exposure and behavioral effects. In both animals and volunteers, methods for assessment of similar functional effects were used to enable interspecies comparisons. A battery of tests including standardized observational measures, spontaneous motor activity assessments and learned visual discrimination performance was utilized in rat studies to evaluate acute central nervous system (CNS) depression. Groups of rats were exposed to WS at target concentrations of 0, 600, 2400 or 4800mg/m(3), 8h/day for 3 consecutive days. Blood and brain concentrations of two WS constituents; 1,2,4-trimethylbenzene (TMB) and n-decane (NDEC), were used as biomarkers of internal exposure. In a volunteer study, 12 healthy male subjects were exposed for 4h to either 57 or 570mg/m(3) WS in two test sessions spaced 7 days apart, and neurobehavioral effects were measured using a computerized neurobehavioral test battery. Blood samples were taken at the end of the exposure period to measure internal concentrations of TMB and NDEC. Results of the behavioral tests in rats indicated WS-induced changes particularly in performance and learned behavior. In humans, some subtle performance deficits were observed, particularly in attention. The behavioral effects were related to concentrations of the WS components in the central nervous system. These studies demonstrated a qualitative similarity in response between rats and humans, adding support to the view that the rodent tests can be used to predict levels of response in humans and to assist in setting occupational exposure levels for hydrocarbon solvents.
Telomere attrition is a hallmark of cellular aging and shorter telomeres have been reported in mood and anxiety disorders. Telomere shortening is counteracted by the enzyme telomerase and cellular ...protection is also provided by the antioxidant enzyme glutathione peroxidase (GPx). Here, telomerase, GPx, and telomeres were investigated in 46 social anxiety disorder (SAD) patients in a within-subject design with repeated measures before and after cognitive behavioral therapy. Treatment outcome was assessed by the Liebowitz Social Anxiety Scale (self-report), administered three times before treatment to control for time and regression artifacts, and posttreatment. Venipunctures were performed twice before treatment, separated by 9 weeks, and once posttreatment. Telomerase activity and telomere length were measured in peripheral blood mononuclear cells and GPx activity in plasma. All patients contributed with complete data. Results showed that social anxiety symptom severity was significantly reduced from pretreatment to posttreatment (Cohen's d = 1.46). There were no significant alterations in telomeres or cellular protection markers before treatment onset. Telomere length and telomerase activity did not change significantly after treatment, but an increase in telomerase over treatment was associated with reduced social anxiety. Also, lower pretreatment telomerase activity predicted subsequent symptom improvement. GPx activity increased significantly during treatment, and increases were significantly associated with symptom improvement. The relationships between symptom improvement and putative protective enzymes remained significant also after controlling for body mass index, sex, duration of SAD, smoking, concurrent psychotropic medication, and the proportion of lymphocytes to monocytes. Thus, indices of cellular protection may be involved in the therapeutic mechanisms of psychological treatment for anxiety.
PDF
