Ornithine transcarbamylase (OTC) deficiency in a female patient with a de novo deletion of the paternal X chromosome

Summary A girl with ornithine transcarbamylase (OTC) deficiency was investigated for molecular and cytogenetic abnormalities that might explain this phenotype. Analysis with polymorphic DNA markers indicated that the patient did not inherit paternal alleles of the OTC locus, but that she did inherit the proximal locus DXS7 and the long arm of chromosome X. High-resolution cytogenetic analysis of the patient indicated a deletion of Xp11.4-p21, whereas both parents had normal karytoypes. Since the mother might be heterozygous according to biochemical tests, a second mutation within the maternal OTC gene cannot be excluded.     

The Effect of Post-Exercise Cryotherapy on Recovery Characteristics: A Systematic Review and Meta-Analysis

The aim of this review and meta-analysis was to critically determine the possible effects of different cooling applications, compared to non-cooling, passive post-exercise strategies, on recovery characteristics after various, exhaustive exercise protocols up to 96 hours (hrs). A total of n = 36 articles were processed in this study. To establish the research question, the PICO-model, according to the PRISMA guidelines was used. The Cochrane’s risk of bias tool, which was used for the quality assessment, demonstrated a high risk of performance bias and detection bias. Meta-analyses of subjective characteristics, such as delayed-onset muscle soreness (DOMS) and ratings of perceived exertion (RPE) and objective characteristics like blood plasma markers and blood plasma cytokines, were performed. Pooled data from 27 articles revealed, that cooling and especially cold water immersions affected the symptoms of DOMS significantly, compared to the control conditions after 24 hrs recovery, with a standardized mean difference (Hedges’ g) of -0.75 with a 95% confidence interval (CI) of -1.20 to -0.30. This effect remained significant after 48 hrs (Hedges’ g: -0.73, 95% CI: -1.20 to -0.26) and 96 hrs (Hedges’ g: -0.71, 95% CI: -1.10 to -0.33). A significant difference in lowering the symptoms of RPE could only be observed after 24 hrs of recovery, favouring cooling compared to the control conditions (Hedges’ g: -0.95, 95% CI: -1.89 to -0.00). There was no evidence, that cooling affects any objective recovery variable in a significant way during a 96 hrs recovery period.     

The reproductive biology of the Rock Partridge Alectoris graeca saxatilis in the southern French Alps: first evidence of double-nesting behaviour

Capsule: Double-nesting occurs frequently in Rock Partridges Alectoris graeca living in the southern French Alps.

Aims: To investigate reproductive parameters of a Rock Partridge Alectoris graeca population.

Methods: The reproductive behaviour of 62 radio-tagged birds was monitored during the breeding seasons 2012–16, to record breeding phenology, clutch sizes, hatching success, nest survival and parental care.

Results: Double-nesting behaviour in the Rock Partridge was confirmed for the first time. Participation in incubation was similar for males and females (86% versus 70%). Clutch size was larger for nests incubated by males (11.0?±?1.6 eggs) than by females (9.5?±?1.2). Male nest survival rate (0.37) tended to be lower than female nest survival rate (0.62), although the difference was not significant. No significant difference was detected between male and female hatching success. Nest failures were caused by mammals taking the eggs (78%) or predation of the incubating parent (13%). Some circumstantial evidence suggests that occurrence of double-nesting behaviour could depend on previous winter and spring weather influencing the body condition of females. The reproductive biology of the Rock Partridge contrasts in some breeding traits with Red-legged Partridge and natural partridge hybrids, possibly due to climatic differences between habitats.

Conclusion: Confirmation of double-nesting in Rock Partridges indicates that climatic constraints inherent to its mountain environment do not act as an impediment to this behaviour. Variation in weather conditions between years could influence the annual occurrence of double-nesting.     

Maternal Control of PIN1 Is Required for Female Gametophyte Development in Arabidopsis

Land plants are characterised by haplo-diploid life cycles, and developing ovules are the organs in which the haploid and diploid generations coexist. Recently it has been shown that hormones such as auxin and cytokinins play important roles in ovule development and patterning. The establishment and regulation of auxin levels in cells is predominantly determined by the activity of the auxin efflux carrier proteins PIN-FORMED (PIN). To study the roles of PIN1 and PIN3 during ovule development we have used mutant alleles of both genes and also perturbed PIN1 and PIN3 expression using micro-RNAs controlled by the ovule specific DEFH9 (DEFIFICENS Homologue 9) promoter. PIN1 down-regulation and pin1-5 mutation severely affect female gametophyte development since embryo sacs arrest at the mono- and/or bi-nuclear stages (FG1 and FG3 stage). PIN3 function is not required for ovule development in wild-type or PIN1-silenced plants. We show that sporophytically expressed PIN1 is required for megagametogenesis, suggesting that sporophytic auxin flux might control the early stages of female gametophyte development, although auxin response is not visible in developing embryo sacs.     

The influence of reduced photorespiration on long-term growth and development of wheat

The long-term role of photorespiration was investigated by comparing growth, development, gas exchange characteristics and mineral nutrition of a wheat crop ( Triticum aestivum L. cv. Courtot) cultivated in a culture chamber during a life cycle, either in 4% O₂ or in normal O₂ Low O₂ pressure reduced photorespiration, but CO₂ was controlled so that net photosynthesis remained the same as in the control crop. The growth and development of the low O₂ crop was slowed down. Ear appearance was 16 days late, but the rate of tillering was the same as in the control and was maintained longer so that the final number of tillers was doubled. Pigment, ribulose bisphosphate carboxylase (EC 4.1.1.39) and soluble sugar contents were similar. The response of photosynthesis to CO₂ and O₂ was not appreciably changed by the low O₂ treatment. There was almost no seed formation, and the senescence of the leaves was delayed. It appears that in non-stress conditions most of the photorespiration can be suppressed without damage to the photosynthetic apparatus. Retardation of development and inhibition of reproduction are likely due to other effects of O₂.     

Ethanol Administration in the Rat Decreases Prostacyclin Production by Isolated Brain Microvessels

The effects of short- and long-term ethanol administration to rats on basal levels and formation of prostacyclin (PGI2) measured as 6-keto-prostaglandin F1 alpha (6-keto-PGF1 alpha), and on lipid class content and fatty acid composition of isolated brain microvessels (BMV) were studied. After acute treatment (2 h, at the peak of plasma ethanol concentration) basal 6-keto-PGF1 alpha levels in BMV and release on incubation were reduced to 50% of control values. After chronic administration (15 days), PGI2 release was reduced to about 40% of control values, without changes in basal levels. Total lipid, phospholipid, and cholesterol levels in BMV, measured after prolonged administration of alcohol, were not modified. Also, only minor changes in the fatty acid composition of individual phospholipid classes were detected. The observed reduction of PGI2 synthesis in BMV thus could not be related to changes of the fatty acid precursor pool in the preparation. Precursor release and/or the biosynthetic pathways may be affected by ethanol administration.     

Crystal Structure of Two Anti-Porphyrin Antibodies with Peroxidase Activity

We report the crystal structures at 2.05 and 2.45 Å resolution of two antibodies, 13G10 and 14H7, directed against an iron(III)-αααβ-carboxyphenylporphyrin, which display some peroxidase activity. Although these two antibodies differ by only one amino acid in their variable λ-light chain and display 86% sequence identity in their variable heavy chain, their complementary determining regions (CDR) CDRH1 and CDRH3 adopt very different conformations. The presence of Met or Leu residues at positions preceding residue H101 in CDRH3 in 13G10 and 14H7, respectively, yields to shallow combining sites pockets with different shapes that are mainly hydrophobic. The hapten and other carboxyphenyl-derivatized iron(III)-porphyrins have been modeled in the active sites of both antibodies using protein ligand docking with the program GOLD. The hapten is maintained in the antibody pockets of 13G10 and 14H7 by a strong network of hydrogen bonds with two or three carboxylates of the carboxyphenyl substituents of the porphyrin, respectively, as well as numerous stacking and van der Waals interactions with the very hydrophobic CDRH3. However, no amino acid residue was found to chelate the iron. Modeling also allows us to rationalize the recognition of alternative porphyrinic cofactors by the 13G10 and 14H7 antibodies and the effect of imidazole binding on the peroxidase activity of the 13G10/porphyrin complexes.