Post PhD: MBBS Year 6 - Preparation for Practice
Transcription Factors and Disease: A molecular investigation into association and function
Prof Steve Humphries, Cardiovascular Genetics, Department of Medicine
Description of Project:
Transcription factors play a major role in gene expression and disease. Two transcription factors have recently been associated with cardiovascular dysfunction: TCF7L2 and ZNF202. The transcription factor TCF7L2 has been recently confirmed to be strongly associated with type 2 diabetes (Grant et al.). This gene has multiple splice variations. We are investigating whether splicing is connected with disease phenotype and how aberrant forms of TCF7L2 cause type 2 diabetes. ZNF202, Zinc Finger 202, is also a transcription factor. It has been shown by Stene et al to be strongly associated with atherosclerosis and heart disease. It too is alternatively spliced which will be looked at. The investigation will further attempt to elucidate the molecular mechanisms by which this aberrant transcription factor increases risk of CHD events.
Grant SF et al. Variant of transcription factor 7-like 2 (TCF7L2) gene confers risk of type 2 diabetes. Nature Genetics 38, 2006, pp320-323