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 244 for “"Exons"”.
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Tissue-specific classification of alternatively spliced human exons
… methods to distinguish alternative conserved exons (ACEs) in human and mouse. However, the cellular machinery, the spliceosome, does not use comparative genomics to decide when to include and when to exclude an exon. Human RefSeq exons obtained from the University of California Santa Cruz …
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Designer Exons Inform a Biophysical Model for Exon Definition
… in humans contain mostly short internal exons flanked by long introns. To explain the removal of such introns, recognition of the exons instead of recognition of the introns has been proposed. This thesis studies this exon definition mechanism using a bottom-up approach. To reduce the …
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Characterization of the mechanisms behind the alternative splicing of the mutually exclusive exons 18N and 18A in the sodium channel gene SCN8A and mutually exclusive exons 5N and 5A in the soldium channel gene SCN9A
… SCN8A gene contains two mutually exclusive exons, 18N and 18A. Transcripts with exon 18N have a conserved inframe stop codon that predicts the synthesis of a truncated, non functional sodium channel. This protein is expressed in fetal brain and non-neuronal tissues. Once the exon 18A is …
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Sequence motifs predictive of tissue-specific skipping
… a tissue-specific skipping score for skipped exons using exon-exon junction microarray data. We compare these exons with known literature-verified EST skipped exons and exons predicted to be skipped in both human and mouse. After deriving tissue-specific skipped exon sets for brain, heart, …
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Molecular and functional study of splice variations of the L-type voltage-gated calcium channel CaV1.2 alpha1-subunit
… transcript-scanning method revealed 19 of the 55 exons were subjected to alternative splicing, and two of these were novel exons. A large IVS3-S4 variability resulting from combinatorial utilization of exons 31-33 demonstrated a correlation between increased IVS3-S4 linker length and more …
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The evolution of mRNA splicing in mammals
… in mammals. I first investigate the evolution of exons that predate the most ancient divergence of species studied, finding that their splicing is frequently poorly conserved. For a subset of these exons, I identify unique regulatory properties and provide evidence linking alternative splicing to …
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Demarcation of coding and non-coding regions of DNA using linear transforms
… regions can be distinguished in the gene- the exons, or the regions that code for amino acid, and the introns, or the regions that do not code for amino acid. The main aim of the thesis is to study signal processing techniques that help distinguish between the regions of the exons and the …
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Evolutionary Fitness of Non-Coding Genetic Elements
… two classes of genetic elements, pseudogenes and exons, that may encode functional amino acid sequences. In Chapter 1 of this dissertation, we introduce the concepts and tools employed in later chapters. We provide a conceptual overview of pseudogenes and exons, as well as review past works that …
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Conservation of exon scrambling in human and mouse
Exon scrambling is a phenomenon in which the exons of an mRNA transcript are spliced in an order inconsistent with that of the genome. In this thesis, I present a computational analysis of scrambled exons in human and mouse. RNA-seq data was mapped to the genome and all unaligned reads were …
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Comparative Analysis of Alternative Splicing in Homo sapiens, Mus musculus and Rattus norvegicus Transcriptomes
… analyses of alternative and constitutive exons within alternatively spliced genes. Interactive web implementation of our databases brings to end-users the ability to instantly identify orthologous human-mouse, human-rat and mouse-rat gene-pairs with their corresponding exons. A novel …
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Regulation of PAX6: DNA methylation and MicroRNAs
… focusing on promoter CpG islands (Study 2a), exons (Study 2b) and intronic CpG islands (Study 2c). In neural induction of human pluripotent stem cells, PAX6 gene expression is first activated, and then repressed. Using targeted bisulfite sequencing and methylation-specific PCR it is revealed …
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Cloning and characterization of ovine insulin, insulin-like growth factor-I and -II genes
… and characterized. The olGF-I gene contains six exons spanning greater than 30 kilobases. Class 1 and class 2 oIGF-I transcripts contained exons 1 and 2 alternatively-spliced to exon 3, respectively. A novel oIGF-I exon (W) was located upstream of exon 1 and was found alternatively spliced to …
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Characterization of a murine activated lymphocyte antigen (MALA-2) : the murine homologue of human intercellular adhesion molecule 1 (ICAM-1)
… genomic clone (4.0 kb ), containing five 3'exons and a pseudo exon. The five exons are common to both cDNAs and have consensus splice donor and acceptor sequences. The pseudo exon lacks these splice donor and acceptor sequences. The exons encoding the 5 region of K4-1.1 were not isolated, …
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Mutationsanlyse bei Patienten mit Glykogenose Typ Ia
… einer EDTA-Blutprobe isoliert und die 5 Exons des G6Pase-Gens mittels PCR amplifiziert. Anschließend wurden die PCR-Amplifikate durch SSCP-Analyse auf eventuelle Mutationen untersucht. Proben, bei denen sich ein verändertes Bandenmuster fand, wurden einer Sequenzierung des betreffenden …
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Studies of exon scrambling and mutually exclusive alternative splicing
… work on the study of exon scrambling, in which exons are spliced at canonical splice sites but joined together in an order different from that predicated by the genomic sequence. The public expressed sequence tag (EST) database was searched for transcripts containing scrambled exons. Stringent …
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Computational methods for splice site prediction
… especially to the documentation of the coding exons of each gene, as well as non-coding and regulatory sequences. In spite of the extensive research done in the area, the production of genomic data remains far ahead of the ability to reliably predict such features computationally. Eukaryotic …
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The structure and sequence of the single calmodulin gene of Drosophila melanogaster
… melanogaster. The two major protein coding exons, designated 2 and 3, had been previously isolated. Together they encode 139 of a total of 148 amino acids. These exons were used to screen a D. melanogaster embryonic cDNA library in order to isolate clones containing sequences derived from …
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Identification of alternative exon usage in cancer survival using hierarchical modeling
… the variations in expression present between the exons within a gene and to identify AEU biomarkers of GBM survival. Methods The expression of exons corresponding to 25,403 genes was related to the survival of 250 individuals diagnosed with GBM in a training data set. Genes exhibiting AEU in the …
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Caractérisation des arns circulaires du gène pax-5 dans les cancers lymphoïdes
… circPax5 identifiés sont composés soient des exons 2 et 3, des exons 2 à 4, des exons 2 à 5, des exons 2 à 6 ou des exons 2 à 8 du gene Pax-5. La structure circulaire des circPax5 ainsi que leur séquence respective ont été validées par séquençage de la jonction formée par les …
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Methyl Chloride Transferase: Isolation, characterization,cDNA Cloning, and Expression
… was also characterized and is composed of 8 exons and 7 introns.
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