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 12 of 12 for “"allelic expression"”.
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Molecular genetics of arrhythmogenic right ventricular and dilated cardiomyopathy in South Africans
… found in desmosomal genes affect gene expression, and (4) search for new candidate genes for ARVC in families where no causal mutation was found in desmosomal protein genes. Methods: 177 participants with cardiomyopathy were screened for desmosomal gene mutations which were confumed by …
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A genomic analysis using RNA-Seq to investigate the adaptation of the psychrophilic diatom Fragilariopsis cylindrus to the polar environment
… polymorphism resulted in pronounced unequal expression of putative heterozygous allelic gene copies in response to six different conditions. RNA-Seq detected transcriptional activity for 95% of the 27,137 predicted genes and > 4 fold expression changes between 55% of putative alleles. The …
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Establishment of a phenotypical model of adverse outcomes associated with assisted reproductive technologies
… aim of this research was to ascertain baseline allelic expression and DNA methylation in bovine of imprinted loci known to be misregulated in BWS. We conclude that the imprinted gene expression of KCNQ1OT1, CDKN1C, H19, and PLAGL1 are conserved between the bovine and human. In addition, the …
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The role of imprinting in embryonic development and tumorigenesis
… a mammalian adaptation that results in the mono-allelic expression of a subset of genes depending on their parental origin. It is believed that DNA methylation marks are responsible for maintaining imprinted gene expression patterns. The 'parental conflict' hypothesis was proposed to explain the …
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Oct4 and Sox2 regulate methylation at the Igf2/H19 imprinting control region
Mono-allelic expression of H19 and Igf2 depends on parental-specific methylation of an imprinting control region (ICR). Although CTCF sites maintain the absence of DNA methylation on maternal ICRs after fertilization, some Beckwith-Wiedemann patients showed maternal ICR methylation that correlated …
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Cellular/Molecular Analysis of Interspecies Sterile Male Hybrids In Drosophila
… improper nuclear packaging, even with bi-allelic expression of sperm protamines. Third, individual sperm nuclei possess two sperm tails, with two undifferentiated, but active, mitochondria. Finally, I mapped for genetic factors that contribute to the formation of needle-eye sperm and …
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Transcript Regulation within the Kcnq1 Domain
… and histone modifications along with stable expression of non- coding RNAs. Within the realm of epigenetics is a phenomenon known as genomic imprinting. Imprints are marks that distinguish the maternal from the paternal chromosomes in the form of methylation. Methylation marks can influence …
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Statistical power for RNA-seq data to detect two epigenetic phenomena
… is the study of heritable changes in gene expression or cellular phenotype caused by mechanisms other than changing the underlying DNA sequence. Two epigenetic phenomena, genomic imprinting and Allelic Expression Imbalance (AEI), are discussed in this dissertation. RNA-seq is a powerful new …
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Transcriptional divergence during cichlid embryogenesis
… how variation is manifested at the gene expression levels. This project aims to link cichlid early development to species diversification with the use of comparative transcriptomics. The study focuses on two Lake Malawi cichlid species representing distinct eco- morphological groups: the …
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Theoretical and Computational Studies on the Dynamics and Regulation of Cell Phenotypic Transitions
Cell phenotypic transitions, or cell fate decision making processes, are regulated by complex regulatory networks composed of genes, RNAs, proteins and metabolites. The regulation can take place at the epigenetic, transcriptional, translational, and post-translational levels to name a few. …
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Imprinted Gene Expression and Phenotype of Bovine Concepti with Bos taurus and Bos indicus Genetics
… Imprinted genes, which show differential allelic expression in a parent of-origin dependent manner, are critical regulators of prenatal development. Altered epigenetic modifications of imprinted genes in response to maternal environmental stimuli are believed to impact on prenatal …
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Untersuchungen zur Assoziation genetischer Polymorphismen im Gen des Endotoxinrezeptors CD14 mit der transkriptionellen Aktivität
… darin, die Assoziation des SNPs mit der CD14-Genexpressionsrate in frisch isoliertem humanen Material ex vivo zu überprüfen. Als Parameter für die transkriptionelle Aktivität des CD14-Gens wurden die CD14-mRNA-Menge in PBMC und die sCD14-Serumkonzentration herangezogen. Als Ausgangsmaterial …