Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome is a severe multisystem disorder caused by mutations in VPS33B and VIPAR. A splice site mutation, VPS33B c.1225+5 G>C, was identified in a patient with attenuated ARC phenotype. Modelling of this mutation and misse…
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Tolerance of the semi-allogeneic fetus presents a significant challenge to the maternal immune system. The effect of pregnancy on maternal cellular immunity was established by assessing maternal effector and regulatory T-cell subsets during human pregnancy. This demonstrated tha…
I investigated the role of genetic, environmental and intrauterine factors in child development using data from two large twin studies; the East Flanders Prospective Twin Survey (EFPTS) and the Twins and Multiple Births Association Heritability Study (TAMBAHS). An association be…
Chromatin is the complex of DNA, histones and non-histone proteins that make up chromosomes and the region of dispersed chromosomes during the interphases and S phase of the cell cycle. It is found inside cell nuclei in eukaryotic cells. There are many important proteins in the …
Porcine somatic cell nuclear transfer (SCNT) offers new opportunities for fundamental science, medicine and agriculture. Ten countries or regions have developed the technology of porcine cloning and at least 42 groups have succeeded in producing piglets. Although successful, the…
Nucleotide excision repair (NER) is a versatile pathway of DNA repair that deals with a variety of DNA lesions, such as UV-induced DNA damage and interstrand crosslinks. In bacteria, the UvrABC system carries out NER. In human cells, XPF and XPG are two structure-specific endonu…
The PDE 11 family of dual specificity phosphodiesterases was first identified in 2000, and has not been well characterised, although mutations in the gene have been linked to multiple disorders, including major depressive disorder, and cancer. DmPDE11 is a dual specificity phosp…
This thesis is concerned with speciation and population genetics in the plant genus Silene (section Elisanthe). The introductory chapter is a literature review covering characteristics of the species studied, and the current literature on their evolutionary dynamics and populati…
Antigenic variation processes play a central role in parasite invasion and chronic infectious disease, and are likely to respond to host immune mechanisms and epidemiological characteristics. Whether changes in antigenic variation strategies lead to net positive or negative effe…
The peptide hormone, ghrelin, exerts its physiological effects through a G-protein-coupled receptor called the ghrelin-R. The ghrelin-R displays a high degree of constitutive activity, signalling through the inositol phosphate pathway in the absence of bound agonist. TMs III and…
The insect Malpighian tubule is involved in osmoregulation, detoxification and immune function, physiological processes which are essential for insect development and survival. As the Malpighian tubules contain many ion channels and transporters, they could be an effective tissu…
The Xenopus pronephros is a simple paired organ; each nephron consists of a single large glomus, one set of tubules and a single duct. Previous work done in our laboratory demonstrates that the tubules and duct are specified at stages 12.5 and 14 respectively and the glomus is s…
Corticotrophin releasing hormone (CRH) and CRH receptor (CRH-R) appear to play a number of important roles in human pregnancy. The purpose of the first part of my project was to clone and sequence CRH-R subtypes from human myometrial biopsies. In order to understand the molecula…
Several genes, essential for cell growth and division in Escherichia coli, have been mapped to the 76 minute region of the chromosome. DNA sequencing of part of this region revealed three cell division genes (ftsY, ftsE, and ftsX) in a putative operon. A fourth gene (orf4) was a…
This thesis presents the modelling and analysis of an engineered genetic oscillator in E.coli. Genetic oscillators composed of transcriptional feedback loops are the central components of circadian clocks [16]. Thus understanding small genetic oscillators is key for understandin…
Two new transcription factor binding sites have been identified within the phosphoglycerate kinase (PGK) gene promoter in the yeast Saccharomyces cerevisiae. The binding sites are upstream of the previously defined UAS, and are bound in vitro by the multifunctional transcription…
The nucleus of the eukaryotic cell contains a large pool of lipids together with structural proteins and genomic DNA. The project aim was to develop simple and robust lipid and DNA models that will allow for these complex molecules to be mixed together in order to elucidate the …
During meiosis, homologous chromosomes pair and become connected by formation of the synaptonemal complex. Recombination is initiated by DNA double strand breaks (DSBs), formed by the protein SPO11-1. In Arabidopsis, ~10% of DSBs are repaired as crossovers, which are reciprocal …
Prior to the work described in this thesis, a great deal of the oxytetracycline cluster (otc) had been sequenced and the putative functions of deduced gene products assigned, based on similarity to known gene products in the databases. The 3.0 kb KpnI23-MluI26b fragment located …