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 modification	Enzymes and other proteins that mediate the chromatin modification	Mutated genes implicated as a cause of a pathogenesis	Relevant proteins that interact with the enzymes etc	Clinical conditions and pathologies that correlate with a listed mutation or protein-protein interaction	References
Histone acetylation		Histone deacetylases
		HDAC1/2	Rb	pRb	Neoplasia	24,25, 26
			p53	p53	Neoplasia	92
			—	Mi-2β	Dermatomyositis and neoplasia	33, 34, 122
			—	ΜΤΑ2	Metastasis	35
			RARα	Fusion proteins	Acute promyelocytic leukaemia	39, 40, 47, 48
		Histone acetyltransferases
		p300/CBP	—	E1A	Transformation	82
			MLL andMOZ	Fusion proteins	Acute myeloid leukaemia	94, 95
			CBP	—	Rubinstein-Taybi syndrome	96
		TAF II 250	—	pRb	Loss of tumour suppression?	28
Histone phosphorylation	Rsk-2 kinase	RSK2	Not known	Coffin-Lowry syndrome	103
DNA methylation		DNA methyltransferase	DNMT3B	Not known	ICF syndrome	113, 114
		MethylCpG binding proteins		MECP2	HDAC/Sin3	Rett syndrome	125
		MethylCpG binding proteins		MBD4	Not known	Microsatellite unstable colon cancers	124
Chromatin remodelling		ATPase/helicases
		Mi-2β	—	NuRD complex	Dermatomyositis and neoplasia	130, 131
		ATRX	ATRX	Not known	ATRX syndrome	134
		BRG-1/hBRM	—	pRb	Neoplasia	28
		hSWI5/INI1 subunit of SWI2/SNF2 complex	hSWI5/INI1	SWI2/SNF2 complex	Malignant rhabdoid tumours, chronic myeloid leukaemias	141, 142