Research report 2015 - Max Planck Institute for Molecular Genetics
Our genome in 3D - how DNA-folding regulates our genes
Forschungsgruppe Entwicklung und Krankheit
SummaryThe folding of chromatin is an inherent property of the genome to incorporate the DNA in the cell nucleus. Recent advances using chromosome conformation capture technologies have shown that the genome is folded in structured domains, so-called TADs. Structural variations, as they often occur in human genetic disease, can interfere with TAD configuration and thus result in altered gene expression and consecutive disease. By re-engineering human aberrations in mice it was shown that TADs and their boundaries are an essential component when interpreting structural variations.