Browsing Genetics (Theses and Dissertations) by Date of Publication
Now showing items 1-20 of 190
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On the molecular genetics of retinal dystrophies and glaucoma
(Trinity College (Dublin, Ireland). Department of Genetics, 2000)The central aim of this thesis was the elucidation of the underlying molecular pathologies of inherited diseases of the eye. Previous linkage studies on a large Spanish kindred (family FA-84), segregating adRP, resulted ... -
On the development of animal models for degenerative retinal disease
(Trinity College (Dublin, Ireland). Department of Genetics, 2000)Retinitis pigmentosa (RP) is one of the leading causes of inherited blindness within the working population of many developed countries. There is presently no cure for this disorder. The projects outlined in this thesis ... -
Gene therapy strategies for dominant heterogeneous disorders and the identification of a novel gene causing retinitis pigmentosa and sensorineural deafness
(Trinity College (Dublin, Ireland). Department of Genetics, 2000)The purpose of this Ph.D. thesis has been to contribute towards the generation of therapies for inherited disorders such as retinitis pigmentosa (RP) and osteogenesis imperfecta (OI). In chapter 2, a novel mitochondrial ... -
Gene order evolution and genomic analyses of the model eukaryote, Saccharomyces cerevisiae, and other yeast species
(Trinity College (Dublin, Ireland). School of Genetics and Microbiology, 2000)The complete genome sequence of the yeast Saccharomyces cerevisiae can be used to form a clearer picture of the evolution of the diverse species of yeast and to construct a model of eukaryote genome evolution. In this study ... -
Novel therapeutic strategies for autosomal dominant retinitis pigmentosa
(Trinity College (Dublin, Ireland). School of Genetics and Microbiology, 2000)A major difficulty associated with the design of gene therapies for autosomal dominant diseases is the immense intragenic heterogeneity often encountered in such conditions. Two strategies which circumvent the difficulties ... -
A molecular genetic investigation of Irish origins
(Trinity College (Dublin, Ireland). Department of Genetics, 2000)Three hundred and ninety-four male DNA samples, from Ireland, Turkey and Togo, were genotyped for 5 X chromosome simple tandem repeat (STR) loci. Six Y chromosome STR loci and 8 Y chromosome unique event polymorphisms were ... -
Testing the hypothesis of genome duplications in vertebrates
(Trinity College (Dublin, Ireland). School of Genetics and Microbiology, 2000)The hypothesis that the human genome has undergone at least two rounds of genome duplication has become widely accepted, but has never been rigorously tested. In this study, several map-based inter- and intra-species ... -
A leaf-specific phage T7 RNA polymerase-based system for transgene expression in tobacco chloroplasts
(Trinity College (Dublin, Ireland). School of Genetics and Microbiology, 2001)This thesis describes the development of a chloroplast-localised gene expression system based on the phage T7 RNA polymerase. In order to direct T7 RNAP expression in a leaf-specific manner and to target it to the ... -
Characterization of two genes transcribed from a divergent promotor in Arabidopsis thaliana and encoding plastid-targeted proteins
(Trinity College (Dublin, Ireland). Department of Genetics, 2001)As part of the Arabidopsis genome sequencing project, approximately 85kb of sequence data on chromosome 4 was generated in this laboratory. This included a cosmid clone called cAt4S5 containing a genomic insert of 13.3kb ... -
Therapeutic approaches to halting photoreceptor cell death in the retina
(Trinity College (Dublin, Ireland). School of Genetics and Microbiology, 2001)Retinitis pigmentosa (RP) is a group of hereditary retinopathies affecting approximately 1 in 3500 people in the developed world. The disorders are characterised by the early onset of night blindness followed by a ... -
Comparative analysis of human and mouse acute phase Serum Amyloid A gene expression
(Trinity College (Dublin, Ireland). School of Genetics and Microbiology, 2001)The Serum Amyloid A (S AA) proteins are a family of highly conserved lipoproteins secreted by the liver. Their production and release is massively induced under conditions of inflammation or infection by pro-inflammatory ... -
An investigation of the role of caspase-9-interacting proteins in the molecular control of apoptosis
(Trinity College (Dublin, Ireland). Department of Genetics, 2001)Apoptosis is an important homeostatic mechanism that multicellular organisms utilize to delete cells during development and on an ongoing basis in the adult. At the molecular level, this requires the activation of a family ... -
Transformation and marker gene removal strategies for the plastid genome of Brassica napus
(Trinity College (Dublin, Ireland). Department of Genetics, 2002)Despite the fact that the first transplastomic higher plant was produced more than a decade ago, transformation of the plastid genome and the regeneration of homoplasmic, fertile plants has so far been achieved in only 2 ... -
Genome sequencing and functional genomics in Bacillus subtilis : the expression and roles of the superoxide dismutases and NADH dehydrogenases
(Trinity College (Dublin, Ireland). Department of Genetics, 2002)The work in this thesis spans genome sequencing of Bacillus subtilis, functional analysis of genes of unknown function and more detailed characterisation of the function and regulation of specific genes. Approximately 0.7% ... -
Trypanotolerace in West African cattle and the population genetic effects of selection
(Trinity College (Dublin, Ireland). Department of Genetics, 2002)A panel of 69 microsatellite loci was used to investigate the population genetic effects of selection at genes on linked, neutral markers. Loci were typed in African and European Bos taurus cattle and Bos indicus populations ... -
On the role of caspase-recruitment domain proteins in apoptosis and NFkB activation
(Trinity College (Dublin, Ireland). Department of Genetics, 2002)Apoptosis and NFkB activation are two physiological processes that are essential for host mediated response to cellular injury. Apoptosis is a mechanism that removes damaged or unwanted cells. NFkB is a transcription factor ... -
A bioinformatics approach to (intra-) genome comparisons
(Trinity College (Dublin, Ireland). School of Genetics and Microbiology, 2002)The analysis of large volumes of genomic data generates special computational needs. A Beowulf-type computer cluster was set up for high-performance computing. Improvements over existing tools for the efficient ... -
Evolution of vertebrate genome organisation
(Trinity College (Dublin, Ireland). Department of Genetics, 2002)The increasing availability of genomic sequences from different vertebrate organisms affords molecular biologists the opportunity to thoroughly investigate phenomena that were only hinted at by more sparse data. The work ... -
Molecular genetic investigations of the diversity and origins of Old and New World cattle population
(Trinity College (Dublin, Ireland). Department of Genetics, 2003)One hundred and forty-nine Bos indicus mitochondrial DNA (mtDNA) control region sequences sampled from the Indian subcontinent, the Near East and East Asia were assessed in order to investigate the domestic origins and ... -
Genetic admixture analysis of domesticated cattle
(Trinity College (Dublin, Ireland). Department of Genetics, 2003)Genetic admixture analysis of bovine hybrid zones was carried out through implementation of a variety of statistical and analytical methods. Population genetic analysis of microsatellite variation in seven cattle breeds ...
