Understanding the pathogenesis of disease is instrumental in delineating its progression mechanisms and for envisioning ways to counteract it. In the process, animal models represent invaluable tools for identifying disease-related loci and their genetic components. Amongst them, the laboratory rat is used extensively in the study of many conditions and disorders. The Rat Genome Database (RGD-http://rgd.mcw.edu) has been established to house rat genetic, genomic and phenotypic data. Since its inception, it has continually expanded the depth and breadth of its content. Currently, in addition to rat genes, QTLs and strains, RGD houses mouse and human genes and QTLs and offers pertinent associated data, acquired through manual literature curation and imported via pipelines. A collection of controlled vocabularies and ontologies is employed for the standardized extraction and provision of biological data. The vocabularies/ontologies allow the capture of disease and phenotype associations of rat strains and QTLs, as well as disease and pathway associations of rat, human and mouse genes. A suite of tools enables the retrieval, manipulation, viewing and analysis of data. Genes associated with particular conditions or with altered networks underlying disease pathways can be retrieved. Genetic variants in humans or in sequenced rat strains can be searched and compared. Lists of rat strains and species-specific genes and QTLs can be generated for selected ontology terms and then analyzed, downloaded or sent to other tools. From many entry points, data can be accessed and results retrieved. To illustrate, diabetes is used as a case study to initiate and embark upon an exploratory journey.
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http://dx.doi.org/10.1016/j.csbj.2015.11.006 | DOI Listing |
BMC Plant Biol
December 2024
Institute of Industrial Crops, Shandong Academy of Agricultural Sciences, Jinan, Shandong, 250100, China.
Background: Early-maturity cotton varieties have the potential to be cultivated in a wider geographical area, extending as far north as 46 °N in China, and confer to address the issue of competition for land between grain and cotton by reducing their whole growth period (WGP). Therefore, it is of great importance to develop cotton varieties with comprehensive early maturity and high yield following investigating the regulatory mechanism underlying early maturity and identifying early maturity-related genes.
Results: In this study, 'SCRC19' and 'SCRC21', two excellent cultivars with significantly different WGP, along with their recombinant inbred lines (RILs) consisting of 150 individuals were re-sequenced, yielding 4,092,677 high-quality single nucleotide polymorphisms (SNPs) and 794 bin markers across 26 chromosomes.
PeerJ
December 2024
Rice Research Institute of Liaoning Province, Liaoning Academy of Agricultural Sciences, Shenyang, China.
Background: Rice, a staple food for over half of the global population, exhibits significant diversity in grain shape characteristics, which impact not only appearance and milling quality but also grain weight and yield. Identifying genes and loci underlying these traits is crucial for improving rice breeding programs. Previous studies have identified multiple quantitative trait loci (QTLs) and genes regulating grain length, width, and length-width ratio; however, further investigation is necessary to elucidate their regulatory pathways and their practical application in crop improvement.
View Article and Find Full Text PDFJOR Spine
December 2024
Department of Orthopedics, Xuanwu Hospital Capital Medical University Beijing China.
Background: Lumbar disc degeneration (LDD) is a ubiquitous finding in low back pain. Many different etiology factors may explain the LDD process, such as bone morphogenetic proteins (BMPs), DNA methylation, and gut microbiota. Until recently the mechanisms underlying the LDD process have been elusive.
View Article and Find Full Text PDFFront Immunol
December 2024
Instituto de Investigaciones Marinas (IIM), Consejo Superior de Investigaciones Científicas (CSIC), Vigo, Spain.
Introduction: Furunculosis, caused by the gram-negative bacterium subsp. , remains a significant threat to turbot () aquaculture. Identifying genetic backgrounds with enhanced disease resistance is critical for improving aquaculture health management, reducing antibiotic dependency, and mitigating economic losses.
View Article and Find Full Text PDFOnly a third of immune-associated loci from genome-wide association studies (GWAS) colocalize with expression quantitative trait loci (eQTLs). To learn about causal genes and mechanisms at the remaining loci, we created a unified single-cell chromatin accessibility (scATAC-seq) map in peripheral blood comprising a total of 282,424 cells from 48 individuals. Clustering and topic modeling of scATAC data identified discrete cell-types and continuous cell states, which helped reveal disease-relevant cellular contexts, and allowed mapping of genetic effects on chromatin accessibility across these contexts.
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