Epimutations in Human Disease

  • B. HorsthemkeEmail author
Part of the Current Topics in Microbiology and Immunology book series (CT MICROBIOLOGY, volume 310)


Epigenetics is the study of genes during development. Gene expression states are set by transcriptional activators and repressors and locked in by cell-heritable chromatin states. Inappropriate expression or repression of genes can change developmental trajectories and result in disease. Aberrant chromatin states leading to aberrant gene expression patterns (epimutations) have been detected in several recognizable syndromes as well as in cancer. They can occur secondary to a DNA mutation in a cis- or trans-acting factor, or as a “true” or primary epimutation in the absence of any DNA sequence change. Primary epimutations often occur after fertilization and lead to somatic mosaicism. It has been estimated that the rate of primary epimutations is one or two orders of magnitude greater than somatic DNA mutation. Therefore, the contribution of epimutations to human disease is probably underestimated.


Angelman Syndrome Epigenetic State Assisted Reproduction Technology Somatic Mosaicism Neonatal Diabetes Mellitus 
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© Springer-Verlag Berlin Heidelberg 2006

Authors and Affiliations

  1. 1.Institut für HumangenetikUniversitätsklimikum EssenEssenGermany

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