Table 1.
Histone-modifying enzymes involved in developmental disorders and cancer.
| Histone modifier | Molecular function | Mutations | Associated human disease | Ref. |
|---|---|---|---|---|
| p300 | Writer (KAT) | Germline | Rubinstein–Taybi syndrome | [102] |
| Somatic | Diffuse large B-cell lymphoma, transitional cell carcinoma of the bladder | [76,94,98] | ||
|
| ||||
| CBP | Writer (KAT) | Germline | Rubinstein–Taybi syndrome | [101] |
| Somatic | Relapsed acute lymphoblastic leukemia, diffuse large B-cell lymphoma, transitional cell carcinoma of the bladder | [76,93,94,98] | ||
|
| ||||
| MLL2 | Writer (KMT) | Germline | Kabuki syndrome | [113,114] |
| Somatic | Non-Hodgkin lymphoma, medulloblastoma | [76,77,96] | ||
|
| ||||
| NSD2 | Writer (KMT) | Germline | Wolf–Hirschhorn syndrome | [91] |
| Somatic | Multiple myeloma | [90,91] | ||
|
| ||||
| GLP | Writer (KMT) | Germline | Kleefstra syndrome | [107] |
| Somatic | Medulloblastoma, ganglioglioma | [97,109] | ||
|
| ||||
| JARID1C | Eraser (KDM) | Germline | X-linked mental retardation | [110] |
| Somatic | Clear cell renal cell carcinoma | [99] | ||
KAT: Lysine acetyltransferase; KDM: Lysine demethylase; KMT: Lysine methyltransferase.