About us
IMB (www.imb.de) is a research institute on the campus of the Johannes Gutenberg University in Mainz, Germany. It is generously funded by the Boehringer Ingelheim Foundation and the state of Rhineland-Palatinate. Our research focuses on the biology of the cell nucleus and ranges from the molecular level to systems and computational approaches. Researchers at IMB are supported by strong core facilities that offer state-of-the-art services in bioinformatics, cytometry, genomics, microscopy, proteomics, and protein production.
Background
Human brain development is spatially and temporally tightly controlled, with sequential and precise orchestrated cellular and molecular programs. Any perturbation in these progresses can lead to detrimental effects. For example, mutations in genes encoding for epigenetic regulators, especially for the BAF chromatin remodeling complexes, are frequently causative for neurodevelopmental disorders. These manifest in brain abnormalities, intellectual disabilities and other physical aberrations. We still hardly understand the molecular mechanisms during human brain development that are mediated by these regulators and how their mutations manifest into the disease phenotypes.
BAF chromatin remodeler complexes are large multi-subunit complexes that can slide or eject nucleosome and thereby regulate chromatin accessibility and ultimately gene expression. Recently, we have shown that the maintenance of chromatin accessibility requires constant BAF complex activity and that perturbation of their function during brain development can result in severe molecular, cellular and phenotypic alterations.