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Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 20 of 21 for “"Alternative Splicing (AS)"”.
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Alternative splicing in the regulation of the barley circadian clock
… studied the putative involvement of orphan snoRNAs in the regulation of alternative splicing (AS) in Arabidopsis. This project was very attractive but ran into serious and unforeseen problems with the genetic background of mutants used in the project. Despite deciding to terminate the project, it …
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Genome-wide survey and analysis of allele-specific mRNA splicing in human and mouse
This dissertation aims to examine allele-specific splicing in human and mouse using publicly available datasets. Such datasets, which have been generated from multiple tissue sources and from individuals of diverse backgrounds, are rich and cheap reservoirs of transcript isoforms resulting from …
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Investigation of ARNT isoform-specific regulation of AHR signaling
… receptor nuclear translocator (ARNT) is alternatively spliced into two distinct isoforms, isoform 1 and 3. Although ARNT is found to be critical in immunity, xenobiotic, and hypoxic response, ARNT isoform-specific function has yet to be investigated. We previously demonstrated that …
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The Generation of Alternative Transcripts as a Means of Regulating Phosphorylation in Sonic Hedgehog Medulloblastoma
… progression; however, the promiscuity of kinases often limits the ability to regulate phosphorylation events selectively. Co- and post-transcriptional mechanisms, such as alternative transcription start site (ATSS) usage and alternative splicing (AS), may generate isoforms that include or …
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INVESTIGATING ALTERNATIVE SPLICING REPROGRAMMING REGULATED BY THE E-CADHERIN/B-CATENIN AXIS
Alternative splicing (AS) is vital for proteome flexibility and its aberrations are key drivers of cancer progression. We identified an alternatively spliced exon cassette in myosin VI, an actin motor protein. In healthy epithelial tissues like the ovary and intestine, this exon cassette is …
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Identification of alternative exon usage in cancer survival using hierarchical modeling
Background Alternative exon usage (AEU) is an important component of gene expression regulation. Exon expression platforms allow the detection of associations between AEU and phenotypes such as cancer. Numerous studies have identified associations between gene expression and the brain cancer …
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CELF1, PTBP1, and RBFOX2-mediated alternative splicing regulation in cardiovascular diseases
Alternative splicing (AS) is dysregulated in Type 1 diabetic (T1D) and hypoplastic left heart syndrome (HLHS) patient hearts but the mechanisms responsible are unclear. Here, we provide evidence that in these patient’s hearts that dysregulation of the RNA binding proteins (RBPs) CELF1, PTBP1, and …
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Identification of RBPMS as a smooth muscle master splicing regulator via association of its gene with super-enhancers
Alternative splicing (AS) is primarily regulated by regulatory RNA-binding proteins (RBPs). It has been suggested that a small number of master splicing regulators might control cell-specific programs and these regulators could be identified via the association of their genes with transcriptional …
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A Genome-Scale Analysis of Alternative Splicing Regulation by Splicing Factors in C. elegans
Alternative splicing (AS) is a key mechanism that contributes to the high level of complexity present within metazoan proteomes. This process is highly regulated and important for the development for any animal. With advances in high-throughput technologies, our knowledge of the many AS events that …
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Novel Aspects of the Response to Cellular Stress and Intracellular Bacterial Pathogens
… importance of these adaptive responses, it comes as no surprise that dysregulation of the stress response has been strongly implicated in various diseases including infection, neurodegenerative diseases, and cancer. The findings presented in this thesis reveal novel aspects of the cellular …
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Integrative analysis of transcriptomic data to elucidate regulators of pre-mRNA processing
Alternative pre-mRNA processing events, including alternative splicing (AS) and alternative polyadenylation (APA), are key drivers of transcriptomic and proteomic diversity. This dissertation presents a comprehensive framework for analyzing these events, emphasizing improvements to computational …
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Co-regulation of the Smooth Muscle Cell Alternative Splicing Programme by the RNA-Binding Proteins RBPMS, RBFOX2, MBNL1, and QKI
The phenotypic switching of vascular smooth muscle cells (VSMCs) from a contractile /differentiated state to a synthetic/ proliferative state is a hallmark of many cardiovascular diseases, driven in part by extensive alternative splicing (AS) regulation. RBPMS, a master splicing regulator in …
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Context-Dependent Function of the Splicing Factor hnRNP L
Based on the number of genes impacted (~95% of humans genes), alternative splicing is one of the most extensively used mechanisms for generating proteomic diversity and cellular complexity. Splicing of pre-mRNAs is carried out by a highly specialized, RNA-based macromolecular enzyme known as the …
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Long-read transcriptome profiling of germinal centre B cells
Alternative splicing (AS) is a major regulatory process underpinning the development and function of the immune system. 29% of alternatively spliced genes are specific to immune cells, yet the regulation and function of AS during B cell activation remain largely unknown. The activation of naive B …
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Identification of novel branch points reveals insights into RNA processing
Pre-mRNA splicing is a ubiquitous process necessary for the production of functional eukaryotic mRNAs. The branch point (BP) sequence is one of three key nucleotide sequences required for pre-mRNA splicing, however, in metazoa it has been less comprehensively studied than the 5' splice site (5'SS) …
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Mechanisms of Dysregulated Alternative Splicing in Cardiac and Skeletal Muscle under Diabetic Conditions
… or skeletal muscle myopathy. Protein kinase C (PKC) signaling is a central pathogenic factor in diabetes, although downstream effectors are not well known. Our lab determined a novel role for PKC in alternative splicing (AS) regulation during heart development. We found that PKC …
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Genome-Wide Human-Specific RNA Regulatory Elements in the Brain
… development and pathogenesis of neurological diseases, yet there is still much to be learned. It is estimated that the molecular diagnostic rate of whole exome sequencing (WES) of constitutional diseases is between 9-41%; however, it is thought that diagnostic yield could be much improved by …
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The Effect of Low Temperature on Alternative Splicing in Barley
… It is now clear that genome-wide changes in alternative splicing (AS) also occur in Arabidopsis during the cold-response and many of the genes which undergo cold-induced AS have been linked to roles in either the regulation of the cold-response or regulation of AS. Mutations in splicing …
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Unraveling the ORE1 regulon in Arabidopsis thaliana : molecular and functional characterization of up- and down-stream components
… of many cellular components, allowing a massive remobilization and recycling of nutrients from senescing tissues to other organs (e.g., young leaves, roots, and seeds), thus enhancing the fitness of the plant. Such metabolic coordination requires a tight regulation of gene expression. One …
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An investigation of gene expression, alternative splicing and nonsense-mediated decay in potato in response to Phytophthora infestans infection
… are detected by immune receptors: the cytoplasmic nucleotide binding leucine-rich repeat (NB-LRR) proteins, leading to effector-triggered immunity (ETI). Using a NB-LRR gene enrichment and RNA-seq, previous studies identified over 700 NB-LRR genes in potato.<br/><br/>Dynamic changes in …
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