Many parasites of mammals avoid elimination by varying their exposed antigens. African trypanosomes—deadly parasites of humans and livestock in tropical Africa—possess a comprehensive system of antigenic variation (AV). Trypanosoma brucei undergo frequent, stochastic changes to …
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fruitless (fru) is a pleiotropic gene which produces an array of variant transcription factor isoforms to fulfil a range of developmental and behavioural roles, from the regulation of axonal pathfinding during embryogenesis, all the way to the precise orchestration of individual…
The extent of sequence specificity of the Tn3 resolvase catalytic domain was investigated by creating libraries of Tn3 site I variants in which all of the central 16 bp were systematically randomised in overlapping 4 bp blocks and recombination deficient and recombination profic…
In order to study computationally increasingly complex systems using theoretical methods model Hamiltonians are required to accurately describe the potential energy surface they represent. Also ab-initio methods improve the calculation of the excited states of these complex syst…
Genes do not act alone, rather they form part of large interacting networks with certain genes regulating the activity of others. The structure of these networks is of great importance as it can produce emergent behaviour, for instance, oscillations in the expression of network …
A considerable industry has grown-up around genealogical inference from genetic testing, supplementing more traditional genealogical techniques but with very limited quantification of uncertainty. In many societies Y-chromosomes are co-inherited with surnames and as such passed …
CHARGE association, or syndrome as it is now known, is a condition where a number of congenital malformations are non-randomly associated in a recognizable pattern. There are two sets of diagnostic criteria for CHARGE syndrome which are in common usage at present (Blake et al., …
Muscle atrophy is a feature of many chronic diseases and contributes to both morbidity and mortality, emphasising the importance of understanding the molecular pathways involved. Zinc finger protein 216 (ZNF216) is an atrogene, a gene which is up-regulated during and directly me…
Copy number variation (CNV) has been acknowledged as an important contributor to variation in the human genome, and copy-variable regions harbouring genes are interesting subjects of research for their potential phenotypic effects. However, despite the extensive and continuing d…
Uncoupling protein 1 (UCP1) is essential for non-shivering thermogenesis in brown adipose tissue (BAT) by dissipating proton-motive force to stimulate maximum mitochondrial respiration. cAMP-dependent protein kinase induction of UCP1, as well as the PPAR coactivator1α (PGC1α), i…
Birt Hogg Dubé (BHD) syndrome is an inherited cancer susceptibility syndrome characterised by the development of fibrofolliculomas on the face and upper torso, and increased risk of lung cysts, spontaneous pneumothorax and renal cancer. The findings presented in this thesis adva…
Our ever increasing knowledge of genetics is radically changing disciplines in science and medicine. Significantly, the study of gene expression and protein synthesis within both healthy and abnormal cells has advanced understanding of the mechanism of disease at the molecular l…
Sox2 is one of the earliest known transcription factors to be expressed during development of the nervous system (Rex et al., 1997; Silvia Brunelli, 2003; Wang et al., 2006b; Dee et al., 2008). Ectodermal cells expressing Sox2 have the potential to differentiate into nerve cells…
Mesenchymal stem cells (MSCs) are a multipotent cell population which have been described to exert renoprotective and regenerative effects in experimental models of kidney injury. In addition, it was recently shown that human MSCs are able to contribute to the development of bot…
To identify the full range of targets and the pathogenic consequences, we sought to mimic the pathogenesis of myotonic dystrophy type 1 with temporal and spatial control: temporal to reproduce the developmental pathogenesis of the congenital form, and spatial to isolate tissue s…
Rett syndrome (RTT), a disorder caused almost exclusively by mutations in the X-linked gene, MECP2, has a clinical phenotype thought to be primarily of neurological origin. Disruption of Mecp2 in mice results in a prominent RTT-like phenotype and Mecp2 knock-out animal models pr…
53BP1 is a DNA damage responsive protein that plays a crucial role in checkpoint activation and DNA repair. In addition to its involvement in the cellular response to DNA damage, it has been suggested that 53BP1 can also function to regulate gene expression. 53BP1 was originally…
Understanding how the germ layers are formed is one of the key questions of developmental biology. Abundant studies in the anuran amphibian Xenopus laevis have described that maternal and vegetally localised mRNAs for VegT and Vg1 contribute greatly to the formation of mesoderm …
The Aryl hydrocarbon receptor (AhR) is a ligand-activated transcription factor, which mediates the potent toxic effects of 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD) and related compounds. AhR is regulated by the ligand-binding domain (LBD) of the AhR, and so determining how the…