First Stars. I. Evolution without mass loss

The first generation of stars was formed from primordial gas. Numerical simulations suggest that the first stars were predominantly very massive, with typical masses M > 100 Mo. These stars were responsible for the reionization of the universe, the initial enrichment of the intergalactic medium with heavy elements, and other cosmological consequences. In this work, we study the structure of Zero Age Main Sequence stars for a wide mass and metallicity range and the evolution of 100, 150, 200, 250 and 300 Mo galactic and pregalactic Pop III very massive stars without mass loss, with metallicity Z=10E-6 and 10E-9, respectively. Using a stellar evolution code, a system of 10 equations together with boundary conditions are solved simultaneously. For the change of chemical composition, which determines the evolution of a star, a diffusion treatment for convection and semiconvection is used. A set of 30 nuclear reactions are solved simultaneously with the stellar structure and evolution equations. Several results on the main sequence, and during the hydrogen and helium burning phases, are described. Low metallicity massive stars are hotter and more compact and luminous than their metal enriched counterparts. Due to their high temperatures, pregalactic stars activate sooner the triple alpha reaction self-producing their own heavy elements. Both galactic and pregalactic stars are radiation pressure dominated and evolve below the Eddington luminosity limit with short lifetimes. The physical characteristics of the first stars have an important influence in predictions of the ionizing photon yields from the first luminous objects; also they develop large convective cores with important helium core masses which are important for explosion calculations.Comment: 17 pages, 24 figures, 2 table

First Stars. II. Evolution with mass loss

The first stars are assumed to be predominantly massive. Although, due to the low initial abundances of heavy elements the line-driven stellar winds are supposed to be inefficient in the first stars, these stars may loose a significant amount of their initial mass by other mechanisms. In this work, we study the evolution with a prescribed mass loss rate of very massive, galactic and pregalactic, Population III stars, with initial metallicities $Z=10^{-6}$ and $Z=10^{-9}$, respectively, and initial masses 100, 120, 150, 200, and 250$\,M_{\odot}$ during the hydrogen and helium burning phases. The evolution of these stars depends on their initial mass, metallicity and the mass loss rate. Low metallicity stars are hotter, compact and luminous, and they are shifted to the blue upper part in the Hertzprung-Russell diagram. With mass loss these stars provide an efficient mixing of nucleosynthetic products, and depending on the He-core mass their final fate could be either pair-instability supernovae or energetic hypernovae. These stars contributed to the reionization of the universe and its enrichment with heavy elements, which influences the subsequent star formation properties.Comment: Accepted for publication in Astrophysics & Space Science. 15 pages, 18 figure

Functional genomic analyses uncover APOE-mediated regulation of brain and cerebrospinal fluid beta-amyloid levels in Parkinson disease

Alpha-synuclein is the main protein component of Lewy bodies, the pathological hallmark of Parkinson\u27s disease. However, genetic modifiers of cerebrospinal fluid (CSF) alpha-synuclein levels remain unknown. The use of CSF levels of amyloid bet

Rhizobium Promotes Non-Legumes Growth and Quality in Several Production Steps: Towards a Biofertilization of Edible Raw Vegetables Healthy for Humans

The biofertilization of crops with plant-growth-promoting microorganisms is currently considered as a healthy alternative to chemical fertilization. However, only microorganisms safe for humans can be used as biofertilizers, particularly in vegetables that are raw consumed, in order to avoid sanitary problems derived from the presence of pathogenic bacteria in the final products. In the present work we showed that Rhizobium strains colonize the roots of tomato and pepper plants promoting their growth in different production stages increasing yield and quality of seedlings and fruits. Our results confirmed those obtained in cereals and alimentary oil producing plants extending the number of non-legumes susceptible to be biofertilized with rhizobia to those whose fruits are raw consumed. This is a relevant conclusion since safety of rhizobia for human health has been demonstrated after several decades of legume inoculation ensuring that they are optimal bacteria for biofertilization

Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish

Purpose: Pathogenic variants in Lysyl-tRNA synthetase 1 (KARS1) have increasingly been recognized as a cause of early-onset complex neurological phenotypes. To advance the timely diagnosis of KARS1-related disorders, we sought to delineate its phenotype and generate a disease model to understand its function in vivo. Methods: Through international collaboration, we identified 22 affected individuals from 16 unrelated families harboring biallelic likely pathogenic or pathogenic in KARS1 variants. Sequencing approaches ranged from disease-specific panels to genome sequencing. We generated loss-of-function alleles in zebrafish. Results: We identify ten new and four known biallelic missense variants in KARS1 presenting with a moderate-to-severe developmental delay, progressive neurological and neurosensory abnormalities, and variable white matter involvement. We describe novel KARS1-associated signs such as autism, hyperactive behavior, pontine hypoplasia, and cerebellar atrophy with prevalent vermian involvement. Loss of kars1 leads to upregulation of p53, tissue-specific apoptosis, and downregulation of neurodevelopmental related genes, recapitulating key tissue-specific disease phenotypes of patients. Inhibition of p53 rescued several defects of kars1−/− knockouts. Conclusion: Our work delineates the clinical spectrum associated with KARS1 defects and provides a novel animal model for KARS1-related human diseases revealing p53 signaling components as potential therapeutic targets

Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment.

Usher syndrome, the most prevalent cause of combined hereditary vision and hearing impairment, is clinically and genetically heterogeneous. Moreover, several conditions with phenotypes overlapping Usher syndrome have been described. This makes the molecular diagnosis of hereditary deaf-blindness challenging. Here, we performed exome sequencing and analysis on 7 Mexican and 52 Iranian probands with combined retinal degeneration and hearing impairment (without intellectual disability). Clinical assessment involved ophthalmological examination and hearing loss questionnaire. Usher syndrome, most frequently due to biallelic variants in MYO7A (USH1B in 16 probands), USH2A (17 probands), and ADGRV1 (USH2C in 7 probands), was diagnosed in 44 of 59 (75%) unrelated probands. Almost half of the identified variants were novel. Nine of 59 (15%) probands displayed other genetic entities with dual sensory impairment, including Alström syndrome (3 patients), cone-rod dystrophy and hearing loss 1 (2 probands), and Heimler syndrome (1 patient). Unexpected findings included one proband each with Scheie syndrome, coenzyme Q10 deficiency, and pseudoxanthoma elasticum. In four probands, including three Usher cases, dual sensory impairment was either modified/aggravated or caused by variants in distinct genes associated with retinal degeneration and/or hearing loss. The overall diagnostic yield of whole exome analysis in our deaf-blind cohort was 92%. Two (3%) probands were partially solved and only 3 (5%) remained without any molecular diagnosis. In many cases, the molecular diagnosis is important to guide genetic counseling, to support prognostic outcomes and decisions with currently available and evolving treatment modalities

The first inherited retinal disease registry in Iran: Research protocol and results of a pilot study

Background: To describe the protocol for developing a national inherited retinal disease (IRD) registry in Iran and present its initial report. Methods: This community-based participatory research was approved by the Ministry of Health and Medical Education of Iran in 2016. To provide the minimum data set (MDS), several focus group meetings were held. The final MDS was handed over to an engineering team to develop a web-based software. In the pilot phase, the software was set up in two referral centers in Iran. Final IRD diagnosis was made based on clinical manifestations and genetic findings. Ultimately, patient registration was done based on all clinical and non-clinical manifestations. Results: Initially, a total of 151 data elements were approved with Delphi technique. The registry software went live at www.IRDReg.org based on DHIS2 open source license agreement since February 2016. So far, a total of 1001 patients have been registered with a mean age of 32.41±15.60 years (range, 3 months to 74 years). The majority of the registered patients had retinitis pigmentosa (42, 95 CI: 38.9 to 45). Genetic testing was done for approximately 20 of the registered individuals. Conclusion: Our study shows successful web-based software design and data collection as a proof of concept for the first IRD registry in Iran. Multicenter integration of the IRD registry in medical centers throughout the country is well underway as planned. These data will assist researchers to rapidly access information about the distribution and genetic patterns of this disease. © 2020 The Author(s). This is an open-access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons. org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited

Life in an arsenic-containing gold mine: Genome and physiology of the autotrophic arsenite-oxidizing bacterium Rhizobium sp. NT-26:

Arsenic is widespread in the environment and its presence is a result of natural or anthropogenic activities. Microbes have developed different mechanisms to deal with toxic compounds such as arsenic and this is to resist or metabolize the compound. Here, we present the first reference set of genomic, transcriptomic and proteomic data of an Alphaproteobacterium isolated from an arseniccontaining goldmine: Rhizobium sp. NT-26. Although phylogenetically related to the plant-associated bacteria, this organism has lost the major colonizing capabilities needed for symbiosis with legumes. In contrast, the genome of Rhizobium sp. NT-26 comprises a megaplasmid containing the various genes, which enable it to metabolize arsenite. Remarkably, although the genes required for arsenite oxidation and flagellar motility/biofilm formation are carried by the megaplasmid and the chromosome, respectively, a coordinate regulation of these two mechanisms was observed. Taken together, these processes illustrate the impact environmental pressure can have on the evolution of bacterial genomes, improving the fitness of bacterial strains by the acquisition of novel functions. © The Author(s) 2013. Published by Oxford University Press on behalf of the Society for Molecular Biology and Evolution