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. Author manuscript; available in PMC: 2009 Apr 9.
Published in final edited form as: Nat Rev Mol Cell Biol. 2008 Mar;9(3):206–218. doi: 10.1038/nrm2346

Table 2.

Class I/II/IV HDACs and associated subunits in human disease and mouse development

Class Member Associated subunit Map position Human disease Effect of mouse gene deletion
I HDAC1 1p34.1 Embryonic lethal by E9.5 (refs. 141, 142)
Proliferation defects in ES cells141,143
I HDAC2 6q21 Colon cancer Perinatal death from cardiac defects142
Cardiomyopathy from heart-specific deletion of both HDAC1 and HDAC2 (ref. 142)
Sin3A 15q24.2 Embryonic lethal by E6.5; splenomegaly & glomerulopathy in heterozygotes114,144
Sds3 12q24.23 Embryonic lethal by E6.5
Defects in heterochromatin formation & chromosome segregation113
Mi2β 12p13 Defects in T cell development & CD4 gene expression145
MBD3 19p13.3 Pre- or peri-natal death146
Defects in ES cell pluripotency
p66α 19p13.11 Embryonic lethal by E9.5 (ref. 147)
LSD1 1p36.12 Embryonic lethal by E7.5 (ref. 148)
I HDAC3 5q31.3 Embryonic lethality with vascular defects (R. Mongomery and E. Olson, pers. commun.)
Liver hypertrophy (S. Hiebert, pers. commun.)
N-CoR 17p11.2 Embryonic lethal by E15.5 & defects in neuronal and hematopoitic differentiation149
I HDAC8 Xq13 Craniofacial abnormalities (M. Haberland and E. Olson, pers. commun.)
IIa HDAC4 2q37.2 Osteodystrophy? Small size, chondrocyte hypertrophy
Exencephaly150
IIa HDAC5 17q21 Cardiac hypertrophy151
IIa HDAC7 12q13.1 Cardiovascular defects152
IIa HDAC9 7p12.1 Cardiac hypertrophy153
IIb HDAC6 Xp11.22 Neurodegeneration? Viable with massive increase of α-tubulin acetylation (P. Matthias, pers. commun.)
IIb HDAC10 22q13.3 ?
IV HDAC11 3p25.2 ?

Note: For associated subunits, only those subject to gene inactivation analysis in mice are listed here.