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 25 for “"Pseudogenes"”.
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Evolutionary Fitness of Non-Coding Genetic Elements
… fitness of 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 …
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Computational Tools and Analyses for Improved Inference of Variant Effects
… and 2) developed a pipeline to screen human pseudogenes for which different genetic variant interpretation might re-classify these pseudogenes to be protein-coding genes, refining human genome annotation.
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NANOGP1 as a Model to Study the Consequences of Gene Duplications on Human Pluripotency and Development
… Secondly, upon investigating the expression of pseudogenes in human naïve pluripotent stem cells (PSCs), I found that NANOGP1 is among the top 1% of the highest expressed pseudogenes. Because high expression levels of NANOG are crucial for maintaining human pluripotency, I hypothesised that a …
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Incomplete concerted evolution in the non-hybrid diploid Clematic fremontii S. Watston (Rananculaceae)
… sequenced PCR products, the uncovering of pseudogenes, the myriad alleles uncovered through a massive cloning effort, and is a cautionary description about the shortcomings of this gene region, especially for studies below the level of subgenus. Unexpectedly, it appears that a couple of …
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New insights in the molecular pathogenesis of neurofibromatosis type 1
… of the NF1 gene, the presence of several NF1 pseudogenes, the complex interactions between cell types within affected tissues, and the NF1 heterozygous state of all cells in the body. The major goal of this thesis was to gain insight into the developmental concepts underlying various …
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Partial isolation and characterization of the mouse calmodulin genes
… the results indicated that at least two likely pseudogenes exist in addition to the functional gene. Using a probe that contained only sequence from the promoter region and first intron of the Cam II gene, the chromosomal location of the bona fide Cam II gene was identified. Evidence indicates …
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Analysis of cathepsin H-deficient mice and identification of a dense cluster of placenta specific peptidase genes
… the identification, in the same cluster, of pseudogenes and of four genes encoding putative cysteine peptidase inhibitors related to the proregion of C1A peptidases.
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Prioritisation of candidate genes for psychiatric disorders
… filters out likely false positives by removing pseudogenes. A unique data integration method is used to rank the remaining list of genes. Additionally, ranking is validated by tissue expression and single nucleotide polymorphism annotation. DIG exhibited comparable performance to existing tools …
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Identification of epigenetically dysregulated genes in tumours that metastasise to the brain
… (lincRNAs) or non-protein coding genes such as pseudogenes derived from their parental gene. Methylation analyses in BBM and their associated primary tumours from individual patients have revealed that identified genes are dysregulated either early or late in tumour evolution due to aberration …
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Analysis of a Cotton Gene Cluster for the Antifungal Protein Osmotin
… osmotin genes (OSMI and OSMII) and two osmotin pseudogenes (OSMIII and OSMIV). A segment of 16,007 basepairs of genomic DNA was sequenced from the overlapping genomic clones (GenBank Accessions AY303690 and AF304007). The two cotton osmotin genes were found to have open reading frames of 729 …
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Cloning of actin genes from a genomic library of the newt, Notophthalmus viridescens
… 2. the high copy number of cytoplasmic actin pseudogenes in other vertebrates and the high degree of evolutionary sequence conservation among actin genes increased the chance of cloning one of the newt cytoplasmic actin genes. 3. Preliminary experiments indicated that a newt actin could …
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Evolution of the Proteasome
… by these results because unprocessed proteasome pseudogenes are not found. Finally, scoring tables calculated from numerical indices of amino acid properties were used to quantify the evolution of amino acid properties among aligned alpha proteasome sequences using step analyses. Significantly …
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Molecular diagnosis in inherited polycystic kidney disease
… and sequence specific challenges related to pseudogenes that share >97% homology to the main disease gene (PKD1). This thesis addresses the sequencing and variant interpretation challenges encountered in the molecular diagnosis of PKD. In addition, mechanisms of cyst formation are explored. …
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Characterization of chalcone synthase genes in red raspberry cultivar (rubus idaeus)
… of those sequence confirmed being PKS/CHS pseudogenes in plant genome. The two informative sources generated in this thesis, including the fosmid sub-libraries, which are availably manageable sources for validating the BAC sequences, and physical map drafts provided better information of …
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Mating interactions of the harmful dinoflagellate alexandrium tamarense from UK coastal waters
… Group I and Group III isolates may have rDNA pseudogenes corresponding to different ribotypes. If correct this could have implications for the overestimation of A. tamarense group diversity in natural populations when using rDNA sequences for identification.
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Investigating the duplication and evolution of essential fertilization proteins
… that show homology with previously sequenced ZP pseudogenes. One of the newly described ZP proteins has a duplicated ZP-N domain, and phylogenetics suggests this occurred independently from vertebrate ZP-N expansions. This transcriptome analysis also identified five abalone ovary TFPs, which may …
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Bioinformatics Investigation on the Role of Obox Gene Family in Preimplantation Embryo Development
… the evolution of Obox gave a rise to a mass of pseudogenes (47 were found in Emsembl), which implied that retrotransposons could affect the activation of Obox genes. We analyzed Obox genomic sequences by scanning the LTR retrotransposons showing that 5’-UTR of Obox contain LTR elements and …
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Características histopatológias y biomarcadores del cáncer colorrectal metastásico asociados al desarrollo de enfermedad trombombólica venosa
… múltiples (n=27), no codificantes (n=37), pseudogenes (n=4), precursores (n=1), pequeños (n=1) y no asignados (n=8). El análisis de rutas reveló 83 vías que estaban diferencialmente alteradas en pacientes con CCR y CAT en comparación con los controles. Estas vías involucraban transcritos …
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Isolation and characterization of an RNA polymerase III encoded gene of Pinus radiata and its use in pine transformation
… failure, which is attributed to the presence of pseudogenes and regions homologous to walking/sequencing primers among paralogs. The pine transcriptome was also screened unsuccessfully for ortholgs of desirable heterologous candidate genes like the ribosomal protein genes MsRL5 of Medicago sativa …
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Use of molecular and bioinformatics tools for developing methods of epidemiological identification of trypanosomes
… analysis of mobile elements inserted in RHS/pseudogenes in the T.brucei genome was carried out. The aims of this were to locate variable regions of these genes that could be used as detailed markers for trypanosome strain identification. Sequences of the RHS genes were retrieved from the …
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