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.