Selberg Supertrace Formula for Super Riemann Surfaces III: Bordered Super Riemann Surfaces

This paper is the third in a sequel to develop a super-analogue of the classical Selberg trace formula, the Selberg supertrace formula. It deals with bordered super Riemann surfaces. The theory of bordered super Riemann surfaces is outlined, and the corresponding Selberg supertrace formula is developed. The analytic properties of the Selberg super zeta-functions on bordered super Riemann surfaces are discussed, and super-determinants of Dirac-Laplace operators on bordered super Riemann surfaces are calculated in terms of Selberg super zeta-functions.Comment: 43 pages, amste

An international intercomparison of stable carbon isotope composition measurements of dissolved inorganic carbon in seawater

We report results of an intercomparison of stable carbon isotope ratio measurements in seawater dissolved inorganic carbon (δ 13C‐DIC) which involved 16 participating laboratories from various parts of the world. The intercomparison involved distribution of samples of a Certified Reference Material for seawater DIC concentration and alkalinity and a preserved sample of deep seawater collected at 4000 m in the northeastern Atlantic Ocean. The between‐lab standard deviation of reported uncorrected values measured with diverse analytical, detection, and calibration methods was 0.11‰ (1σ ). The multi‐lab average δ 13C‐DIC value reported for the deep seawater sample was consistent within 0.1‰ with historical measured values for the same water mass. Application of a correction procedure based on a consensus value for the distributed reference material, improved the between‐lab standard deviation to 0.06‰. The magnitude of the corrections were similar to those used to correct independent data sets using crossover comparisons, where deep water analyses from different cruises are compared at nearby locations. Our results demonstrate that the accuracy/uncertainty target proposed by the Global Ocean Observing System (±0.05‰) is attainable, but only if an aqueous phase reference material for δ 13C‐DIC is made available and used by the measurement community. Our results imply that existing Certified Reference Materials used for seawater DIC and alkalinity quality control are suitable for this purpose, if a “Certified” or internally consistent “consensus” value for δ 13C‐DIC can be assigned to various batches.publishedVersio

Mutations in PTRH2 cause novel infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, and muscle weakness

OBJECTIVE: To identify the cause of a so-far unreported phenotype of infantile-onset multisystem neurologic, endocrine, and pancreatic disease (IMNEPD). METHODS: We characterized a consanguineous family of Yazidian-Turkish descent with IMNEPD. The two affected children suffer from intellectual disability, postnatal microcephaly, growth retardation, progressive ataxia, distal muscle weakness, peripheral demyelinating sensorimotor neuropathy, sensorineural deafness, exocrine pancreas insufficiency, hypothyroidism, and show signs of liver fibrosis. We performed whole-exome sequencing followed by bioinformatic analysis and Sanger sequencing on affected and unaffected family members. The effect of mutations in the candidate gene was studied in wild-type and mutant mice and in patient and control fibroblasts. RESULTS: In a consanguineous family with two individuals with IMNEPD, we identified a homozygous frameshift mutation in the previously not disease-associated peptidyl-tRNA hydrolase 2 (PTRH2) gene. PTRH2 encodes a primarily mitochondrial protein involved in integrin-mediated cell survival and apoptosis signaling. We show that PTRH2 is highly expressed in the developing brain and is a key determinant in maintaining cell survival during human tissue development. Moreover, we link PTRH2 to the mTOR pathway and thus the control of cell size. The pathology suggested by the human phenotype and neuroimaging studies is supported by analysis of mutant mice and patient fibroblasts. INTERPRETATION: We report a novel disease phenotype, show that the genetic cause is a homozygous mutation in the PTRH2 gene, and demonstrate functional effects in mouse and human tissues. Mutations in PTRH2 should be considered in patients with undiagnosed multisystem neurologic, endocrine, and pancreatic disease

Combined immunodeficiency develops with age in immunodeficiency-centromeric instability-facial anomalies syndrome 2 (ICF2)

The autosomal recessive immunodeficiency-centromeric instability-facial anomalies syndrome (ICF) is characterized by immunodeficiency, developmental delay, and facial anomalies. ICF2, caused by biallelic ZBTB24 gene mutations, is acknowledged primarily as an isolated B-cell defect. Here, we extend the phenotype spectrum by describing, in particular, for the first time the development of a combined immune defect throughout the disease course as well as putative autoimmune phenomena such as granulomatous hepatitis and nephritis. We also demonstrate impaired cell-proliferation and increased cell death of immune and non-immune cells as well as data suggesting a chromosome separation defect in addition to the known chromosome condensation defect

Nitrogen acquisition by roots: physiological and developmental mechanisms ensuring plant adaptation to a fluctuating resource

International audienceNitrogen (N) is one of the key mineral nutrients for plants and its availability has a major impact on their growth and development. Most often N resources are limiting and plants have evolved various strategies to modulate their root uptake capacity to compensate for both spatial and temporal changes in N availability in soil. The main N sources for terrestrial plants in soils of temperate regions are in decreasing order of abundance, nitrate, ammonium and amino acids. N uptake systems combine, for these different N forms, high- and low-affinity transporters belonging to multige families. Expression and activity of most uptake systems are regulated locally by the concentration of their substrate, and by a systemic feedback control exerted by whole-plant signals of N status, giving rise to a complex combinatory network. Besides modulation of the capacity of transport systems, plants are also able to modulate their growth and development to maintain N homeostasis. In particular, root system architecture is highly plastic and its changes can greatly impact N acquisition from soil. In this review, we aim at detailing recent advances in the identification of molecular mechanisms responsible for physiological and developmental responses of root N acquisition to changes in N availability. These mechanisms are now unravelled at an increasing rate, especially in the model plant Arabidopsis thaliana L.. Within the past decade, most root membrane transport proteins that determine N acquisition have been identified. More recently, molecular regulators in nitrate or ammonium sensing and signalling have been isolated, revealing common regulatory genes for transport system and root development, as well as a strong connection between N and hormone signalling pathways. Deciphering the complexity of the regulatory networks that control N uptake, metabolism and plant development will help understanding adaptation of plants to sub-optimal N availability and fluctuating environments. It will also provide solutions for addressing the major issues of pollution and economical costs related to N fertilizer use that threaten agricultural and ecological sustainability