Functional investigationof mutations in cardiovascular disease

To characterize genetic variants associated with cardiovascular disease two different analytic pipelines are used. The first one is focusing on variants affecting protein coding regions of the genome by a broad spectrum of different technologies (two hybrid assays, immunoprecipitation or ChIP) to investigate exchanges of selected amino acids on protein complex formation or protein DNA interaction. The second part of this project is focusing on variants within the non-coding part of the genome. Based on public or own databases variants are rated and listed regarding their predicted functional relevance. Selected variants will be analyzed by cellular in-vitro systems and chromatin conformation capture assays to investigate their effect on chromatin structure and gene expression.