0000000000585621
AUTHOR
Xin Zhou
Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia
Author version made available in accordance with the publisher's policy.
Nine Loci for Ocular Axial Length Identified through Genome-wide Association Studies, Including Shared Loci with Refractive Error
Refractive errors are common eye disorders of public health importance worldwide. Ocular axial length (AL) is the major determinant of refraction and thus of myopia and hyperopia. We conducted a meta-analysis of genome-wide association studies for AL, combining 12,531 Europeans and 8,216 Asians. We identified eight genome-wide significant loci for AL (RSPO1, C3orf26, LAMA2, GJD2, ZNRF3, CD55, MIP, and ALPPL2) and confirmed one previously reported AL locus (ZC3H11B). Of the nine loci, five (LAMA2, GJD2, CD55, ALPPL2, and ZC3H11B) were associated with refraction in 18 independent cohorts (n = 23,591). Differential gene expression was observed for these loci in minus-lens-induced myopia mouse …
Additional file 1 of The genome sequence of the grape phylloxera provides insights into the evolution, adaptation, and invasion routes of an iconic pest
Additional file 1: Figures. S1-S22, Table S1-S20, Methods and Results. Figure S1. Mitochondrial genome view of grape phylloxera. Figure S2. Proportion of transposable elements (TE) in the genome. Figure S3. GO terms of phylloxera-specific genes. Figure S4. Enriched GO terms in the phylloxera genome with and without TEs. Figure S5. Gene gain/loss at different nodes or branches. Figure S6. Species phylogenetic tree based on insect genomes and the transcriptomes of Planoccoccus citri and Adelges tsugae. Figure S7. Diagram of the gap-filling and annotation process. Figure S8. Urea cycle in D. vitifoliae and A. pisum. Figure S9. IMD immune pathway in D. vitifoliae.Figure S10. Phylogenetic tree o…
Unveiling the spatial structure of the overionized plasma in the supernova remnant W49B
W49B is a mixed-morphology supernova remnant with thermal X-ray emission dominated by the ejecta. In this remnant, the presence of overionized plasma has been directly established, with information about its spatial structure. However, the physical origin of the overionized plasma in W49B has not yet been understood. We investigate this intriguing issue through a 2D hydrodynamic model that takes into account, for the first time, the mixing of ejecta with the inhomogeneous circumstellar and interstellar medium, the thermal conduction, the radiative losses from optically thin plasma, and the deviations from equilibrium of ionization induced by plasma dynamics. The model was set up on the basi…
Additional file 1: Figure S1. of Transcriptomic data from panarthropods shed new light on the evolution of insulator binding proteins in insects
Tracing the evolutionary origin of CTCF with ancestral state reconstruction. Figure S2. Tracing the evolutionary origin of Su(Hw) with ancestral state reconstruction. Figure S3. Tracing the evolutionary origin of CP190 with ancestral state reconstruction. Figure S4. Tracing the evolutionary origin of GAF with ancestral state reconstruction. Figure S5. Tracing the evolutionary origin of Pita with ancestral state reconstruction. Figure S6. Tracing the evolutionary origin of Mod(mdg4) with ancestral state reconstruction. Figure S7. Tracing the evolutionary origin of Zw5 with ancestral state reconstruction. Figure S8. Phylogenetic gene tree of CTCF orthologs. Figure S9. Phylogenetic gene tree o…
Transcriptomic data from panarthropods shed new light on the evolution of insulator binding proteins in insects : Insect insulator proteins.
Background Body plan development in multi-cellular organisms is largely determined by homeotic genes. Expression of homeotic genes, in turn, is partially regulated by insulator binding proteins (IBPs). While only a few enhancer blocking IBPs have been identified in vertebrates, the common fruit fly Drosophila melanogaster harbors at least twelve different enhancer blocking IBPs. We screened recently compiled insect transcriptomes from the 1KITE project and genomic and transcriptomic data from public databases, aiming to trace the origin of IBPs in insects and other arthropods. Results Our study shows that the last common ancestor of insects (Hexapoda) already possessed a substantial number …
Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium.
Myopia is a complex genetic disorder and a common cause of visual impairment among working age adults. Genome-wide association studies have identified susceptibility loci on chromosomes 15q14 and 15q25 in Caucasian populations of European ancestry. Here, we present a confirmation and meta-analysis study in which we assessed whether these two loci are also associated with myopia in other populations. The study population comprised 31 cohorts from the Consortium of Refractive Error and Myopia (CREAM) representing 4 different continents with 55,177 individuals; 42,845 Caucasians and 12,332 Asians. We performed a meta-analysis of 14 single nucleotide polymorphisms (SNPs) on 15q14 and 5 SNPs on …
Polysorbate 80 controls Morphology, structure and stability of human insulin Amyloid-Like spherulites
AbstractAmyloid protein aggregates are not only associated with neurodegenerative diseases and may also occur as unwanted by-products in protein-based therapeutics. Surfactants are often employed to stabilize protein formulations and reduce the risk of aggregation. However, surfactants alter protein-protein interactions and may thus modulate the physicochemical characteristics of any aggregates formed. Human insulin aggregation was induced at low pH in the presence of varying concentrations of the surfactant polysorbate 80. Various spectroscopic and imaging methods were used to study the aggregation kinetics, as well as structure and morphology of the formed aggregates. Molecular dynamics s…
Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia
Refractive error is the most common eye disorder worldwide and is a prominent cause of blindness. Myopia affects over 30% of Western populations and up to 80% of Asians. The CREAM consortium conducted genome-wide meta-analyses, including 37,382 individuals from 27 studies of European ancestry and 8,376 from 5 Asian cohorts. We identified 16 new loci for refractive error in individuals of European ancestry, of which 8 were shared with Asians. Combined analysis identified 8 additional associated loci. The new loci include candidate genes with functions in neurotransmission (GRIA4), ion transport (KCNQ5), retinoic acid metabolism (RDH5), extracellular matrix remodeling (LAMA2 and BMP2) and eye…
Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium
To identify genetic variants associated with refractive astigmatism in the general population, meta-analyses of genome-wide association studies were performed for: White Europeans aged at least 25 years (20 cohorts, N = 31,968); Asian subjects aged at least 25 years (7 cohorts, N = 9,295); White Europeans aged <25 years (4 cohorts, N = 5,640); and all independent individuals from the above three samples combined with a sample of Chinese subjects aged <25 years (N = 45,931). Participants were classified as cases with refractive astigmatism if the average cylinder power in their two eyes was at least 1.00 diopter and as controls otherwise. Genome-wide association analysis was carried out for …
Additional file 1 of The genome sequence of the grape phylloxera provides insights into the evolution, adaptation, and invasion routes of an iconic pest
Additional file 1: Figures. S1-S22, Table S1-S20, Methods and Results. Figure S1. Mitochondrial genome view of grape phylloxera. Figure S2. Proportion of transposable elements (TE) in the genome. Figure S3. GO terms of phylloxera-specific genes. Figure S4. Enriched GO terms in the phylloxera genome with and without TEs. Figure S5. Gene gain/loss at different nodes or branches. Figure S6. Species phylogenetic tree based on insect genomes and the transcriptomes of Planoccoccus citri and Adelges tsugae. Figure S7. Diagram of the gap-filling and annotation process. Figure S8. Urea cycle in D. vitifoliae and A. pisum. Figure S9. IMD immune pathway in D. vitifoliae.Figure S10. Phylogenetic tree o…
Observability and diagnostics in the X-ray band of shock-cloud interactions in supernova remnants
X-ray emitting features originating from the interaction of supernova shock waves with small interstellar gas clouds are revealed in many X-ray observations of evolved supernova remnants (e.g. Cygnus Loop and Vela), but their interpretation is not straightforward. We develop a self-consistent method for the analysis and interpretation of shock-cloud interactions in middle-aged supernova remnants, which can provide the key parameters of the system and the role of relevant physical effects like the thermal conduction, without the need to run ad-hoc numerical simulations and to bother of morphology details. We explore all the possible values of the shock speed and cloud density contrast releva…
The genome sequence of the grape phylloxera provides insights into the evolution, adaptation, and invasion routes of an iconic pest
Background: Although native to North America, the invasion of the aphid-like grape phylloxera Daktulosphaira vitifoliae across the globe altered the course of grape cultivation. For the past 150 years, viticulture relied on grafting-resistant North American Vitis species as rootstocks, thereby limiting genetic stocks tolerant to other stressors such as pathogens and climate change. Limited understanding of the insect genetics resulted in successive outbreaks across the globe when rootstocks failed. Here we report the 294-Mb genome of D. vitifoliae as a basic tool to understand host plant manipulation, nutritional endosymbiosis, and enhance global viticulture. Results: Using a combination of…
Transcriptomic data from panarthropods shed new light on the evolution of insulator binding proteins in insects
BACKGROUND: Body plan development in multi-cellular organisms is largely determined by homeotic genes. Expression of homeotic genes, in turn, is partially regulated by insulator binding proteins (IBPs). While only a few enhancer blocking IBPs have been identified in vertebrates, the common fruit fly Drosophila melanogaster harbors at least twelve different enhancer blocking IBPs. We screened recently compiled insect transcriptomes from the 1KITE project and genomic and transcriptomic data from public databases, aiming to trace the origin of IBPs in insects and other arthropods. RESULTS: Our study shows that the last common ancestor of insects (Hexapoda) already possessed a substantial numbe…
Additional file 1: Figure S1. of Transcriptomic data from panarthropods shed new light on the evolution of insulator binding proteins in insects
Tracing the evolutionary origin of CTCF with ancestral state reconstruction. Figure S2. Tracing the evolutionary origin of Su(Hw) with ancestral state reconstruction. Figure S3. Tracing the evolutionary origin of CP190 with ancestral state reconstruction. Figure S4. Tracing the evolutionary origin of GAF with ancestral state reconstruction. Figure S5. Tracing the evolutionary origin of Pita with ancestral state reconstruction. Figure S6. Tracing the evolutionary origin of Mod(mdg4) with ancestral state reconstruction. Figure S7. Tracing the evolutionary origin of Zw5 with ancestral state reconstruction. Figure S8. Phylogenetic gene tree of CTCF orthologs. Figure S9. Phylogenetic gene tree o…
Worldwide trends in population-based survival for children, adolescents, and young adults diagnosed with leukaemia, by subtype, during 2000–14 (CONCORD-3): analysis of individual data from 258 cancer registries in 61 countries
BACKGROUND Leukaemias comprise a heterogenous group of haematological malignancies. In CONCORD-3, we analysed data for children (aged 0-14 years) and adults (aged 15-99 years) diagnosed with a haematological malignancy during 2000-14 in 61 countries. Here, we aimed to examine worldwide trends in survival from leukaemia, by age and morphology, in young patients (aged 0-24 years). METHODS We analysed data from 258 population-based cancer registries in 61 countries participating in CONCORD-3 that submitted data on patients diagnosed with leukaemia. We grouped patients by age as children (0-14 years), adolescents (15-19 years), and young adults (20-24 years). We categorised leukaemia subtypes a…
Conformational Transitions upon Maturation Rule Surface and pH-Responsiveness of α-Lactalbumin Microparticulates
De novo designed protein supramolecular structures are nowadays attracting much interest as highly performing biomaterials. While a clear advantage is provided by the intrinsic biocompatibility and...
A population of isolated hard X-ray sources near the supernova remnant Kes 69
Recent X-ray observations of the supernova remnant IC443 interacting with molecular clouds have shown the presence of a new population of hard X-ray sources related to the remnant itself, which has been interpreted in terms of fast ejecta fragment propagating inside the dense environment. Prompted by these studies, we have obtained a deep {\sl XMM-Newton} observation of the supernova remnant (SNR) Kes 69, which also shows signs of shock-cloud interaction. We report on the detection of 18 hard X-ray sources in the field of Kes 69, a significant excess of the expected galactic source population in the field, spatially correlated with CO emission from the cloud in the remnant environment. The …
Genome-wide adaptive complexes to underground stresses in blind mole rats Spalax
The blind mole rat (BMR), Spalax galili, is an excellent model for studying mammalian adaptation to life underground and medical applications. The BMR spends its entire life underground, protecting itself from predators and climatic fluctuations while challenging it with multiple stressors such as darkness, hypoxia, hypercapnia, energetics and high pathonecity. Here we sequence and analyse the BMR genome and transcriptome, highlighting the possible genomic adaptive responses to the underground stressors. Our results show high rates of RNA/DNA editing, reduced chromosome rearrangements, an over-representation of short interspersed elements (SINEs) probably linked to hypoxia tolerance, degene…
Additional file 2: Table S1. of Transcriptomic data from panarthropods shed new light on the evolution of insulator binding proteins in insects
BUSCO assessment of the 1KITE transcriptomes. (XLS 21 kb)
Additional file 3: Table S2. of Transcriptomic data from panarthropods shed new light on the evolution of insulator binding proteins in insects
NCBI accession numbers of transcriptome and genome data. (XLS 35 kb)
Additional file 3: Table S2. of Transcriptomic data from panarthropods shed new light on the evolution of insulator binding proteins in insects
NCBI accession numbers of transcriptome and genome data. (XLS 35 kb)
Data from: Transcriptomic data from panarthropods shed new light on the evolution of insulator binding proteins in insects
Background Body plan development in multi-cellular organisms is largely determined by homeotic genes. Expression of homeotic genes, in turn, is partially regulated by insulator binding proteins (IBPs). While only a few enhancer blocking IBPs have been identified in vertebrates, the common fruit fly Drosophila melanogaster harbors at least twelve different enhancer blocking IBPs. We screened recently compiled insect transcriptomes from the 1KITE project and genomic and transcriptomic data from public databases, aiming to trace the origin of IBPs in insects and other arthropods. Results Our study shows that the last common ancestor of insects (Hexapoda) already possessed a substantial number …
Additional file 2: Table S1. of Transcriptomic data from panarthropods shed new light on the evolution of insulator binding proteins in insects
BUSCO assessment of the 1KITE transcriptomes. (XLS 21 kb)