Table 1

Summary of human diseases in which a defect in chromatin modification and remodelling is believed to contribute to a clinical pathology. The defects can arise from mutations in gene products, or by the aberrant recruitment of other proteins that are components of multiprotein complexes. Refer to the main text for details

Type of chromatin modificationEnzymes and other proteins that mediate the chromatin modificationMutated genes implicated as a cause of a pathogenesisRelevant proteins that interact with the enzymes etcClinical conditions and pathologies that correlate with a listed mutation or protein-protein interactionReferences
Histone acetylationHistone deacetylases
 HDAC1/2 Rb pRbNeoplasia 24,25, 26
p53 p53Neoplasia 92
Mi-2βDermatomyositis and neoplasia 33, 34, 122
ΜΤΑ2Metastasis 35
RARα Fusion proteinsAcute promyelocytic leukaemia 39, 40, 47, 48
Histone acetyltransferases
 p300/CBPE1ATransformation 82
MLL andMOZ Fusion proteinsAcute myeloid leukaemia 94, 95
CBP Rubinstein-Taybi syndrome 96
 TAF II 250pRbLoss of tumour suppression? 28
Histone phosphorylationRsk-2 kinase RSK2 Not knownCoffin-Lowry syndrome 103
DNA methylationDNA methyltransferase DNMT3B Not knownICF syndrome 113, 114
MethylCpG binding proteins MECP2 HDAC/Sin3Rett syndrome 125
MBD4 Not knownMicrosatellite unstable colon cancers 124
Chromatin remodellingATPase/helicases
 Mi-2βNuRD complexDermatomyositis and neoplasia 130, 131
 ATRX ATRX Not knownATRX syndrome 134
 BRG-1/hBRMpRbNeoplasia 28
 hSWI5/INI1 subunit of SWI2/SNF2 complex hSWI5/INI1 SWI2/SNF2 complexMalignant rhabdoid tumours, chronic myeloid leukaemias 141, 142