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.
Results
Showing 1 to 20 of 24 for “"allele specific expression"”.
-
Visualizing Allele Specific Expression In Single Cells
… have enabled the quantification of gene expression at the single cell level, revealing significant variability that has been previously obscured by techniques measuring population averages. These techniques, however, have been limited in that they cannot classify transcripts according to …
-
Computational analysis of effects and interactions among human variants in complex diseases
… also considering possible molecular effects like allele-specific expression and the effects of variants on protein interfaces. Some parts of the thesis are also devoted to explore the implementation of efficient computational tools to explore these effects and to perform scalable genotyping of …
-
Comparative genomics of repetitive elements between maize inbred lines B73 and Mo17
… DNA (rDNA), knob, and telomere repeats. Genotype specific 45S rDNA sequences were discovered. The B73 and Mo17 polymorphic k-mers were used to examine allele-specific expression of 45S rDNA in the hybrids. Although Mo17 contains higher copy number than B73, equivalent levels of overall 45S rDNA …
-
Studium exprese mutantních alel a stavu X inaktivace ve vztahu ke klinickým projevům vybraných monogenních X vázaných onemocnění
… of two cell populations. The ratio of expressed alleles in women can be random (50:50) or skewed (≥80:20). The skewed X inactivation may occur due to selection when one of the alleles is preferentially inactivated (secondary X inactivation). In this study XCI status in heterozygous females with …
-
Understanding the classical maize floral development mutant, Polytypic ear1
… encodes a putative ethylene receptor that shows allele-specific expression in Pt1. Ethylene receptors negatively regulate ethylene signaling, and in Arabidopsis, dominant mutations confer ethylene insensitivity. I hypothesized that overexpression of ethylene receptors may also confer a similar …
-
The Evolution of Drosophila Immunity
… evolutionary path and depart in phenotypes. Interspecific differences in gene expression are an important contributor to this divergence where gene expression is regulated by both cis-regulatory elements, which affect nearby gene expression levels in an allele-specific fashion, and …
-
Utilising Single-Cell Technology to Investigate Gene Regulation
… have enabled the accurate quantification of gene expression on a cell-by-cell basis. By capturing the transcriptome of thousands of single cells within complex tissues, ranging from organoids to tumoroids, researchers can map individual gene expression profiles that correspond to distinct cellular …
-
Monoallelic Gene Expression In Human Neural Stem Cells
Monoallelic expression is when only one of a gene’s two copies is transcribed. It has long been recognised in the form of X-chromosome inactivation, genomic imprinting and random monoallelic expression (RME) of a small number of gene families. More recently, studies have reported evidence of …
-
Statistical Modeling Approaches For The Inference of Cancer Mechanisms
… correlations between genetic variations and gene expression provides a better understanding of the functional significance of these variations. Such knowledge has the potential to revolutionize cancer diagnosis and treatment. This thesis describes methods developed to address two related aims. Aim …
-
Investigating the role of ALDH3B2 and FUT2 as potential risk genes to colorectal cancer through computational analysis and gene expression study of colonic cells, and utilizing colorectal cancer cell lines to explore gene-environment interactions
… to the biochemical pathway responsible for the expression of the A and B antigens in non-blood bodily fluids. At least three transcript forms of FUT2 were identified in CRC cell lines. Differences in allele-specific expression of the well-documented functional nonsense mutation rs601338 were …
-
Investigating photosynthetic mechanisms in model and non-model species
… and metabolite profiles. In Chapter 4, an interspecific hybrid between S. laxum and S. hians was used to perform an allele-specific expression analysis (ASE) to identify cis- and trans-regulatory mechanisms controlling genes related to the evolution of photosynthesis in these two grass species, …
-
Developmental and Expression Evolution in C3 and C4 Atriplex and their Hybrids
… I used C3 x C4 Atriplex F1 hybrids and allele-specific expression analysis to investigate the role of cis- and trans-regulatory effects on gene expression divergence. The majority (~80%) of expression divergence between C3 and C4 species arose from cis-only regulatory divergence, …
-
Genetic Pathway Analysis of Abnormal Facial Development In Nonsyndromic Cleft Lip and Palate
… <em>LRP6</em> and <em>DKK1 </em>driving allele-specific expression during craniofacial development. Testing of these variants in our extensive family-based NSCLP dataset identified, for the first time, associations between <em>LRP5</em> and <em>DKK1</em> and NSCLP, and confirmed the …
-
The Molecular Mechanism Of The Gwas Association Of The Slc22a1 Locus With Metabolic Traits
… hepatic function of SLC22A1, we generated liver-specific knockout or overexpression mouse models of SLC22A1 and closely examined their acylcarnitine and lipid profiles. We confirmed that SLC22A1 deletion or overexpression in mice drastically alters systemic acylcarnitine profiles but has little …
-
Organ-specific regulation and molecular evolution of the maize pericarp color1 gene
… organs, most notably kernel pericarp and cob. Alleles of the p1 gene condition distinct tissue-specific pigmentation patterns. To elucidate the molecular basis of these allele-specific expression patterns, we characterized two novel P1-rw alleles, P1-rw1077 and P1-rw751::Ac. Structural analysis …
-
Integrative statistical methods for the genomic analysis of immune-mediated disease
… variants to their target genes, in a tissue-specific manner. To examine the genome-wide enrichment of GWAS summary statistics within PCHi-C chromatin contact maps I developed a novel statistical method, blockshifter. I applied \textit{blockshifter} to a compendium of GWAS summary statistics …
-
Single molecule techniques to probe decision-making processes in developmental biology
… a compromise between quantification of gene expression via bulk assays and qualitative imaging of cell and tissue heterogeneity. There are few options that allow for quantitative, high-resolution, single-cell analysis that is robust but not associated with a high degree of technical …
-
Investigating the Genetic, Evolutionary, and Functional Mechanisms of Adaptations to Copper Mine Tailings in Mimulus guttatus
… In addition, we used F1 hybrids to examine allele specific expression of candidate genes. We found that copper causes more differential gene expression and greater oxidative stress in the nontolerant genotype than in the tolerant genotype. Additionally, comparisons of differentially …
-
Algorithms for analyzing complex structural variations in cancer genomes
… there are still pressing needs for designing specific computational algorithms to tackle the challenges caused by the complexity of cancer genomes. The first part of my thesis is developing a novel computational method called Weaver, which takes whole genome sequencing (WGS) alignment as core …
Page 1 of 2