Project 1: Epigenetic analysis of small cell numbers using C-Chip in conjunction with high throughput sequencing AND Project 2: Chracterisation and modelling of mutant PALB2 proteins

[摘要] Thesis one: Epigenetics and post-translational modifications (PTMs) are processes which contribute to the activation and deactivation of tumour development and cancer cell proliferation. Currently, a huge gap in the literature exists which proves that histone modifications are significantly underrepresented within cancer research, possibly due to a lack of methods which enable the analysis of such samples. This thesis describes a protocol which can be used to successfully identify the presence of PTM of histones from samples containing 1,000-10,000 cells. This protocol could aid in the identification of new drug targets during pharmaceutical drug development. Thesis two: Fanconi anaemia (FA) is a rare, recessive, inherited disease characterised by the biallelic instability of one of 16 proteins associated with the DNA double-stranded break repair pathway. Affected individuals with gene deficiency affecting the FA core complex have a similar clinical appearance, while patients whose defect lies downstream of this show a more severe presentation including the occurrence of embryonal tumours and may not survive infancy. The FANCN gene, otherwise known as PALB2, was originally described as a FA associated gene in 2006. I describe here work towards an investigation of the role of two mutant PALB2 proteins identified in an unusual FANCN family.

[发布机构] University:University of Birmingham;Department:School of Biosciences

[关键词] Q Science;QH Natural history;QH426 Genetics