Table 2.
Chromatin-remodeling proteins, nomenclature and substrate specificity
| Histone methyltransferases | ||||
|---|---|---|---|---|
| Histone and residue | me3 | me2 | me1 | |
| H3 lysine-36 |
NSD3 SETD2* |
NSD1* NSD3 SETD2* |
NSD1* SETD2* |
Cases 1, 2 Case 19 Cases 11, 23, 24, 24, 26 |
| H3 lysine-4 |
SMYD3* SETD1B* |
SMYD3 * NSD3 SETD1B* KMT2E* |
SETD1B* KMT2E* |
Cases 17, 18 Case 19 Cases 27, 28, 29 Case 35 |
| H3 lysine-9 | SETDB1* EHMT1* | SETDB1* EHMT1* | SETDB1* |
Case 30 Case 21 |
| H3 lysine-27 | NSD3 | Case 19 | ||
| H4 lysine-20 | KMT5A* | Case 34 | ||
| Histone demethylases | ||||
|---|---|---|---|---|
| Histone and residue | me3 | me2 | me1 | |
| H3 lysine-4 | KDM5B* | KDM5B* | KDM5B* | Case 20 |
| H3 lysine-27 | KDM6B# | KDM6B# | Case 33 | |
| Histone acetyltransferase | ||||
| Histone acetyltransferase activity | EP300* | Acetylates all four core histones in nucleosomes | Case 16 | |
| Histone H3 acetyltransferase activity | BRPF1* | Stimulates acetyltransferase and transcriptional activity | Case 22 | |
| Histone methylation | ||||
| DNA-binding protein | SETBP1* | Bind the SET nuclear oncogene which is involved in DNA replication | Case 32 | |
| Histone proteins | ||||
| Histone H1 |
HIST1H1D* HIST1H1E* HIST1H2BH* |
Bind to linker DNA between nucleosomes forming the chromatin fiber |
Case 30 Case 31 Case 31 |
|
me1 mono-methylation, me2 di-methylation, me3 tri-methylation
*Heterozygous
#Biallelic