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 48 for “"gene dosage"”.
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The effects of increased Plp1 gene dosage on expression and processing of myelin proteins
… in proteolipid protein 1 (PLP1), an X-linked gene causes Pelizaeus-Merzbacher disease (PMD) in humans. The most frequent cause of PMD is the duplication of PLP1, which encodes the major myelin membrane protein of the human CNS. The #66 transgenic mice with extra copies of the wild type Plp1 …
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Genomic Instability and Gene Dosage Obscures Clues to Virulence Mechanisms of F. tularensis species
… a Single Nucleotide Polymorphism in the wbtK gene, and several complemented mutants, [wbtK+]TIGB03, with dramatic differences in virulence and growth rates. One of the complemented clones (Clone12 or avp-[wbtK+]TIGB03-C12) was aviru-lent, but protected mice against challenge of a lethal dose …
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The Contribution of APP gene dosage to the molecular phenotypes of Alzheimer's disease in human trisomy 21 neurons
… for developing Alzheimer’s disease, a neurodegenerative disease that causes approximately 65% of dementia. People with trisomy 21 develop Alzheimer’s disease pathologies by age 30, and about 80% have dementia by the age of 65. Having three copies of the APP gene, which resides on Chr 21 is …
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Transcriptional Regulation of an Extrachromosomal Gal7 Gene in Saccharomyces Cerevisiae (Yeast Plasmids, Regulatory Mutants, Over Expression)
… of cloned DNA fragments encoding the yeast GAL7 gene, yeast plasmid vectors, chromosomal gal7 deletion strains, and GAL regulatory mutants were used to characterize the in vitro transcription of the GAL7 gene on autonomously replicating plasmids. Normal expression of the plasmid born GAL7 gene …
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The Analysis of Two Receptor-like Kinases Redundantly Required for Pattern Formation during Arabidopsis Embryogenesis
… of various cellular differentiation and morphogenetic programs during plant embryogenesis is required to establish the basic adult body plan. The molecular basis of these patterning events remains to be fully understood. In particular, little is known about the roles of cell-cell signaling …
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Contribution of gene duplications to the evolution of genetic networks
Exploring the forces that drive evolution at the gene network level and investigating underlying principles behind this process are fundamental questions in the context of understanding how evolution shapes transcriptional circuits. In this thesis I present two different explorations along these …
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The role of dosage sensitive genes in aneuploid phenotypes
… copy number changes of a few especially harmful genes that may be present on the extra chromosome, or are caused by copy number alterations of many genes that confer no observable phenotype when varied individually. We used the proliferation defect exhibited by budding yeast strains carrying …
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The Role of Connexin36 in Dopamine D1/D2 Synergism and its Breakdown in Transgenic Mice
… behaviorally, was studied here in mice genetically engineered to express normal, reduced, or undetectable amounts of this protein. The results show that D1/D2 synergism and its breakdown were not affected by the presence or absence of Cx36. Unexpectedly, it was observed that the absence …
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Driver genes associated to Broad Copy Number Aberrations in solid cancers
… the changes in transcript levels correlated to gene dosage. It is known that differences in transcripts dosage are among the common causes of cancer progression, especially when somatic chromosomal aberrations occur into the cells. The molecular mechanism linking them to cancerogenesis and their …
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Estrogen Regulation of Gene Expression and Analysis of the Role of the Coregulator, Repressor of Estrogen Receptor Activity (Rea)
… have used targeted disruption to ablate the REA gene in mice. Genotyping revealed that homozygous animals are not viable, suggesting a crucial role for REA in early development. The viability of heterozygous animals is similar to that of wild type, and female heterozygous animals have an …
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Exploring the role of aneuploidy in phenotypic variability
… These differences have long been attributed to genetic differences within the population altering the likelihood that particular phenotypes will develop. However, work in yeast and mouse models of aneuploidy suggest that phenotypic variability can be a consequence of aneuploidy itself in the …
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Studies on the mechanism of gene-regulated synthesis of diphosphopyridine nucleotide- and triphosphopyridine nucleotide-specific glutamate dehydrogenase isozymes during the cell cycle of the eucaryote Chlorella
… continuous availability for transcription of the gene for this isozyme in the eucaryote Chlorella and is consistent with the hypothesis that, under fully induced conditions, the gene dosage of the cell governs the potential.
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CDC45 Function Alters Cell Sensitivity to DNA Topoisomerase I Poisons
… lesions have yet to be defined.</p> <p>Using the genetically tractable budding yeast, <em>S. cerevisiae</em>, as a model system, a genetic screen was designed to isolate conditional temperature sensitive mutants that exhibit enhanced sensitivity to the CPT mimetic, Top1T<sup>722</sup>A. This …
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Aneuploidy reveals insights into control of protein complex stoichiometry
… segregation during cell division. Because genes are expressed in accordance with their copy number, aneuploidy simultaneously alters the gene dosage of hundreds to thousands of genes. The outcome is an imbalanced proteome, which has a negative impact on cellular physiology and places …
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Density gradient procedures for the selection of synchronous cells of Synechococcus lividus and Chlorella sorokiniana, and the application of the isopycnic technique to the study of the patterns of phosphoribosylglycinamide synthetase during the cell cycle of Chlorella
… the period of DNA replication, the increase in gene dosage did not appear to affect the increase in activity of the enzyme during the cell cycle.
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Developmental origins of cortical circuit dysfunction in a 22q11 deletion mouse model
… by programs of progenitor proliferation, neurogenesis, and neuronal maturation. Disruptions in these processes contribute to the cortical circuit pathology observed in neurodevelopmental disorders such as schizophrenia and autism, intellectual disability. The 22q11.2 deletion syndrome (22q11DS) …
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A Novel Mechanism for Site-Directed Mutagenesis of Large Catabolic Plasmids Using Natural Transformation
… of transformation as an experimental method of gene manipulation. Pseudomonas putida is the natural host of TOL plasmids, ranging between 50 kbp and 300 kbp in size and encoding genes for the catabolism of toluene, meta-toluate, and xylene. These very large, single-copy plasmids are difficult to …
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The regulation and two genes in Bacteroides thetaiotaomicron starch utilization system
… it into the periplasmic space. Several genes have been identified that encode enzymes or outer membrane proteins involved in starch utilization. These have been called sus genes, for starch utilization system. Previous studies have shown that sus structural genes are regulated at the …
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