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Pangenome reconstruction in rats enhances genotype-phenotype mapping and novel variant discovery.
bioRxiv
April 2024
Department of Genetics, Genomics, and Informatics, University of Tennessee Health Science Center, Memphis, TN, USA.
The HXB/BXH family of recombinant inbred rat strains is a unique genetic resource that has been extensively phenotyped over 25 years, resulting in a vast dataset of quantitative molecular and physiological phenotypes. We built a pangenome graph from 10x Genomics Linked-Read data for 31 recombinant inbred rats to study genetic variation and association mapping. The pangenome includes 0.
View Article and Find Full Text PDFSpontaneous nonsense mutation in the tuftelin 1 gene is associated with abnormal hair appearance and amelioration of glucose and lipid metabolism in the rat.
Physiol Genomics
January 2024
Institute of Physiology, Czech Academy of Sciences, Prague, Czech Republic.
Recently, we have identified a recessive mutation, an abnormal coat appearance in the BXH6 strain, a member of the HXB/BXH set of recombinant inbred (RI) strains. The RI strains were derived from the spontaneously hypertensive rat (SHR) and Brown Norway rat (BN-) progenitors. Whole genome sequencing of the mutant rats identified the 195875980 G/A mutation in the tuftelin 1 () gene on chromosome 2, which resulted in a premature stop codon.
View Article and Find Full Text PDFArticle Synopsis
- Neurogenesis in the adult hippocampus is essential for learning and memory, and its disruption is linked to metabolic and neurodegenerative conditions.
- A study using a genetically diverse family of rats identified a genetic relationship between adult neurogenesis and metabolic traits, pinpointing a significant region on Chromosome 16 related to glucose levels and neuron survival.
- The gene Tti2 was found to be a crucial factor in this relationship, with mutations leading to decreased neurogenesis and dysglycemia, suggesting it connects glucose metabolism with brain structural changes.
Beyond Genes: Inclusion of Alternative Splicing and Alternative Polyadenylation to Assess the Genetic Architecture of Predisposition to Voluntary Alcohol Consumption in Brain of the HXB/BXH Recombinant Inbred Rat Panel.
Front Genet
March 2022
Department of Pharmaceutical Sciences, University of Colorado Anschutz Medical Campus, Aurora, CO, United States.
Post transcriptional modifications of RNA are powerful mechanisms by which eukaryotes expand their genetic diversity. For instance, researchers estimate that most transcripts in humans undergo alternative splicing and alternative polyadenylation. These splicing events produce distinct RNA molecules, which in turn yield distinct protein isoforms and/or influence RNA stability, translation, nuclear export, and RNA/protein cellular localization.
View Article and Find Full Text PDFCap analysis of gene expression reveals alternative promoter usage in a rat model of hypertension.
Life Sci Alliance
April 2022
Department of Metabolism, Digestion, and Reproduction, Faculty of Medicine, Imperial College London, London, UK
Article Synopsis
- - The study investigates alternative promoter usage in the context of complex diseases using CAGE sequencing from the left ventricle of hypertensive (SHR) and normotensive (Brown Norway) rat models.
- - Researchers identified over 26,000 transcription start sites, including 1,970 novel cardiac ones, and discovered 28 genes with alternative promoter usage between the two rat strains.
- - The findings suggest that changes in promoter usage may be linked to insulin levels and blood pressure, indicating a possible connection between insulin resistance and hypertension in SHR rats.
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