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. Author manuscript; available in PMC: 2013 Aug 1.
Published in final edited form as: Nat Med. 2012 Aug;18(8):1194–1204. doi: 10.1038/nm.2828

Figure 2. Example monogenetic brain disorders with a heterochromatin defect.

Figure 2

Three examples of monogenetic brain disorders associated with defects in heterochromatin are shown. Mutations in genes encoding the histone demethylase DNMT3B (associated with the disorder ICF1) or the transcriptional repressor ZBTB24 (associated with the disorder ICF2) result in hypo(DNA mC5) methylation of different types of pericentric satellite repeats28,106. The multifunctional chromatin regulator ATRX controls the incorporation of the variant histone H3.3 not only just into nucleosomes surrounding the transcription start sites of active genes but also at various repeat sequences, as indicated. Loss of function mutations in ATRX have been associated with various X-linked mental retardation syndromes.