Searchable abstracts of presentations at key conferences in endocrinology

ea0016s11.1 | Epigenetics in endocrinology | ECE2008

Epimutations in the human genome

Horsthemke Bernhard

Gene expression states are set by transcriptional activators and repressors and often locked in by cell-heritable chromatin states. Aberrant chromatin states leading to aberrant gene expression patterns (epimutations) can change developmental trajectories and result in disease. Epimutations have been detected in several recognizable syndromes, especially those involving imprinted genes, as well as in cancer. They can result from a DNA mutation in a cis- or trans-acting epigene...