Global ETD Search
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 38 for “"splicing factors"”.
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Characterisation of Tau splicing factors in Alzheimer’s disease
… of Alzheimer’s disease (AD). Alternative splicing of the tau pre-mRNA produces six tau isoforms with or without exon 10 (E10); tau4R or tau3R, microtubule binding repeats respectively. In normal human brains the ratio of 4R/3R tau is approximately one. Aberrant E10 splicing is also …
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Second-step splicing factors and heavy metal stress management in Arabidopsis thaliana
Pre-mRNA splicing in plants is mechanistically the same as splicing in other eukaryotes, but its mode of intron recognition is unique. Whereas in animals a pyrimidine-tract contributes to the definition of exons, in plants, introns are defined by the boundaries of AU-rich intron and GC-rich exon. …
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HUMAN GENETIC VARIANTS IN ESSENTIAL SPLICING FACTORS AND THEIR IMPACT ON IMMUNE PATHOLOGY
Pre-mRNA splicing is critical for proper gene expression, and its dysregulation has been implicated in many human diseases including neurodegenerative disorders, cancers and autoimmune diseases. Splicing is a multi-step process executed by the spliceosome, which is composed of five small nuclear …
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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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In Vivo Studies of Yeast Mitochondrial Intron Splicing : Ectopic Branching and a Screen for Nuclear Encoded Splicing Factors
The splicing mechanism of group II introns is analogous to that of nuclear introns and it is generally thought that both share a common ancestor. This work contains two studies of group II intron splicing in yeast mitochondria. Previous studies done in collaboration with Dr. Anna Pyle at Yale …
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Expression profiling of second step splicing factors and role of PRP18a, a second step splicing factor in arabidopsis thaliana
Pre-mRNA splicing represents one of the most fundamental processes that is performed by snRNAs, proteins and a variety of non-snRNP proteins including PRP16, PRP17, PRP18, PRP22 and SLU7. In contrast to yeast and mammals, which contain single gene for each of their second step splicing factors, …
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Lead compound discovery for myotonic dystrophy
… of stable poly(CUG) mRNA which mislocalize splicing factors such as MBNL1 and lead to missplicing in the cell. One therapeutic strategy is to target such mutant mRNA with small molecules to prevent the sequestration of splicing factors which will prevent the multiple missplicing events in …
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Su onkologinėmis ligomis siejamas pre-iRNR splaisingas: splaisingo veiksnių ir hipoksinės mikroaplinkos tyrimas /
… has been systematically increasing. As pre-mRNA splicing is a highly important process in regulating gene expression, it is not surprising that changes in splicing have been observed in many different diseases. Unfortunately, the reasons for the expression of disease-associated mRNA isoforms and …
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Integrative analysis of the metastatic neuroblastoma transcriptome
… RNA sequencing. First, I studied changes in splicing pattern in a cohort of 29 patients. V-Myc Avian Myelocytomatosis Viral Oncogene Neuroblastoma Derived Homolog (MYCN) amplified NBLs showed a distinct splicing pattern affecting multiple cancer hallmarks. Six splicing factors have altered …
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Isoform-Specific Expression During Embryo Development in Arabidopsis and Soybean
… (pre-mRNA) in a eukaryotic organism undergoes splicing, in some cases resulting in the formation of more than one splice variant, a process called alternative splicing. RNA-Seq provides a major opportunity to capture the state of the transcriptome, which includes the detection of alternative …
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Studies on mammalian pre-mRNA splicing : connections to transcription and cancer
… separate pieces of work pertaining to pre-mRNA splicing in mammalian cells. The first part examines the regulation of the alternative splicing of the PKM gene in cancer cells, while the second part investigates the physical connections between the transcriptional apparatus and splicing factors. …
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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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A Common Cellular Response to Broad Splicing Perturbations
… stress that arises from external environmental factors or internal dysfunction. Despite this, cells are remarkably robust, and possess organized cellular response pathways to adapt to stress. Cellular stress responses to disruptions in many steps of the central dogma - from DNA synthesis to …
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Virus-Host Interactions during Epstein-Barr virus Latent Infection of B cells
… interplay between the virus and normal host factors and processes that are critical for maintenance of a successful latent infection. We sought to expand upon the current knowledge of this interplay in three areas: i) appropriation of the Notch signaling pathway via the host factor RBPJ, ii) …
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Quantitative modeling of 5' splice site subclass regulation and evolution
Pre-mRNA splicing is an essential molecular process required for eukaryotic gene expression. In this thesis, I present a previously unknown mechanism of splicing regulation where a family of splicing factors, the LUC7 family, compete to differentially impact 5→ splice site (5→ SS) selection in a …
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Identification of Critical Residues in Spliceosomal Protein Dib1
… One important processing event is known as splicing. Splicing is the removal of non-protein coding regions, known as introns, from pre-messenger RNA and the ligation of the protein coding regions, known as exons, to form a mature mRNA. This process is extremely important. Recurring …
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Nova Regulation of Alternative Splicing in the CNS
… that Nova-1 acts as a regulator of alternative splicing in vivo. In addition to the known target Nova-dependent splicing regulation, exon 3A of glycine receptor α2 subunit (GlyRα2), two new targets are identified, which are the alternative exon, E9 in the inhibitory neurotransmitter receptor …
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Understanding regulation of mRNA by RNA binding proteins
… and application to the developmentally-regulated splicing factors RBFOX2, MBNL1 and CELF1/CUGBP1. For each factor, the canonical motifs are recovered as well as additional near-optimal binding motifs. RNA secondary structure inhibits binding of RBFOX2 and CELF1, while MBNL1 favors unpaired Us but …
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Co-transcriptional recruitment of the U1 snRNP
It is currently believed that the splicing of most pre-mRNAs occurs, at least in part, co-transcriptionally. In order to validate this principle in yeast and establish an experimental system for monitoring spliceosome assembly in vivo, I have employed the chromatin immunoprecipitation (ChIP) assay …
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Splicing The Clock Is Timeless: From Fruit Fly Behavior To Mammalian Retinal Degeneration
… in the field. In this thesis, we uncover a novel splicing factor-mediated mechanism that sets the pace of the clock in both fruit flies and mice. In a Drosophila screen for novel clock regulators, we identify pre-mRNA splicing kinase 4 (prp4) and show its requirement for establishing a delay …
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