Gene expression patterns in cells is regulated through regulatory DNA regions called enhancers. Different cell types and subsets utilizes different sets of active enhancers. The aim of this Academy of Finland project is to investigate active enhancer regions in B cells of healthy individuals and patients with common variable immunodeficiency, the most common primary immunodeficiency disease leading to antibody deficiency. The active enhancer sites will be mapped using 5' single cell RNA-sequencing and novel computational methods. Furthermore, our second aim is to characterise which genes these active enhancers possibly regulate by Omni-C method. This study is performed in university of Helsinki and HUS Helsinki university hospital in collaboration with research group in Japan. This study will help us to understand the pathogenesis of common variable immunodeficiency and basic mechanisms on how human B lymphocytes function. https://www.helsinki.fi/en/researchgroups/immune-cell-signaling

2025

2028