PosMed (http://omicspace.riken.jp/) prioritizes candidate genes for positional cloning by employing our original database search engine GRASE, which uses an inferential process similar to an artificial neural network comprising documental neurons (or 'documentrons') that represent each document contained in databases such as MEDLINE and OMIM. Given a user-specified query, PosMed initially performs a full-text search of each documentron in the first-layer artificial neurons and then calculates the statistical significance of the connections between the hit documentrons and the second-layer artificial neurons representing each gene. When a chromosomal interval(s) is specified, PosMed explores the second-layer and third-layer artificial neurons representing genes within the chromosomal interval by evaluating the combined significance of the connections from the hit documentrons to the genes. PosMed is, therefore, a powerful tool that immediately ranks the candidate genes by connecting phenotypic keywords to the genes through connections representing not only gene-gene interactions but also other biological interactions (e.g. metabolite-gene, mutant mouse-gene, drug-gene, disease-gene and protein-protein interactions) and ortholog data. By utilizing orthologous connections, PosMed facilitates the ranking of human genes based on evidence found in other model species such as mouse. Currently, PosMed, an artificial superbrain that has learned a vast amount of biological knowledge ranging from genomes to phenomes (or 'omic space'), supports the prioritization of positional candidate genes in humans, mouse, rat and Arabidopsis thaliana.
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http://dx.doi.org/10.1093/nar/gkp384 | DOI Listing |
Nature
January 2025
Shanghai Collaborative Innovation Center of Agri-Seeds, Joint Center for Single Cell Biology, School of Agriculture and Biology, Shanghai Jiao Tong University, Shanghai, China.
Soil alkalinization and global warming are predicted to pose major challenges to agriculture in the future, as they continue to accelerate, markedly reducing global arable land and crop yields. Therefore, strategies for future agriculture are needed to further improve globally cultivated, relatively high-yielding Green Revolution varieties (GRVs) derived from the SEMIDWARF 1 (SD1) gene. Here we propose that precise regulation of the phytohormone gibberellin (GA) to optimal levels is the key to not only confer alkali-thermal tolerance to GRVs, but also to further enhance their yield.
View Article and Find Full Text PDFLett Appl Microbiol
January 2025
Panxi Crops Research and Utilization Key Laboratory of Sichuan Province, Xichang University, Liangshan, China.
Levilactobacillus brevis YT108, identified for its ability to metabolize prebiotic xylo-oligosaccharides (XOS), emerges as a candidate for probiotic use in synbiotic food formulations. This study aimed to investigate the metabolic and genomic traits associated with XOS metabolism in YT108 and to assess its probiotic attributes through whole genome sequencing and in vitro assays. Strain YT108 exhibited robust growth kinetics on XOS as the sole carbon source, with a growth profile comparable to that on glucose, achieving a pH reduction to 4.
View Article and Find Full Text PDFPsychiatr Clin North Am
March 2025
Department of Psychiatry and Yale Child Study Center, Yale School of Medicine, 230 South Frontage Road, New Haven, CT 06520, USA. Electronic address:
This review explores the genetic basis of Tourette syndrome (TS), a complex neuropsychiatric disorder characterized by motor and vocal tics. Family, twin, and molecular genetic studies provide strong evidence for a genetic component in TS, with heritability estimates ranging from 50% to 80%. The genetic architecture of TS is complex, involving both common variants with small effects and rare variants with larger effects.
View Article and Find Full Text PDFGene
January 2025
Hangzhou Women's Hospital, Hangzhou, Zhejiang, China. Electronic address:
Pelvic floor disorder (PFD) is a common gynecological disorder, and with the ageing of the population, PFD has a serious impact on the physical and mental health of patients and their quality of life. The most prominent of these are pelvic organ prolapse (POP) and urinary incontinence (UI), about which the etiology is still unclear, and it is urgent to explore their pathogenesis. Advances in genetics and epigenetics have provided new insights into the pathophysiology of PFD.
View Article and Find Full Text PDFComp Biochem Physiol B Biochem Mol Biol
January 2025
Department of Aquatic Animal Medicine, Faculty of Veterinary Medicine, Zagazig University, Zagazig 44519, Egypt. Electronic address:
Alkaline stress impairs fish productivity and performance and, therefore, is considered one of the major challenges facing aquaculture. In this work, the effects of supplementing diets with camel whey protein hydrolysates (WPH) on growth, digestion, antioxidant capacity, and gene expression were investigated in Nile tilapia (Oreochromis niloticus) under alkaline stress. A total of 160 fish (16.
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