Table 1.
Chromatin genes implicated in autism spectrum disorders
| Gene name |
aliases | Human chrom location |
Human disease |
Protein function |
Interacting proteins |
refs |
|---|---|---|---|---|---|---|
| MECP2 | Methyl CpG binding protein 2, ARBP | Xq28 | Rett syndrome (RTT), autism (rare mutation or aberrant methylation) | Binds mCpG, repression, chromatin dynamics | Sin3a, HDAC, ATRX, YB1, SMC1A | 9, 42–46 |
| ATRX | RAD54, XH2 | Xq21.1 | thalassemia, intellectual disabilities | SWI/SNF chromatin remodeling, ATPase/helicase domain | MeCP2, SMC1A | 13, 47 |
| H2AFY | MACROH2A1.1 | 5q31.1 | Autism (association) | Histone H2 variant, X-chromosome inactivation | HDAC1, PARP1 | 8, 48 |
| SMC1A | Cohesin, CDLS2 | Xp11.22 | Cornelia de Lange syndrome (CDLS) | Chromosome cohesion | ATRX, SMC3, MeCP2, CTCF | 13 |
| MACROD2 | 20p12.1 | Autism (association) | O-acetyl-ADP-ribose deacetylase, binds this metabolite from histone deacetylation | 11 | ||
| KDM5C | JARID1C, SMCX | Xp11.22 | ASD, ID (rare mutations) | Histone demethylase of H3K4, gene repression | HDAC, REST | 49–52 |
| MBD1 | CXXC3 | 18q21 | Autism (rare mutations), also rare variants in related genes MBD4, MBD5 | Binds mCpG, links mCpG to H3K9me3 | SETDB1, AFT7IP | 9, 53, 54 |
| ARID1B | BAF250B | 6p25.3 | Coffin-Siris syndrome (CSS), mental retardation autosomal dominant type 12 (MRD12), autism (rare) | Component of SWI/SNF chromatin remodeling complex, AT-rich binding domain | SWI/SNF complex proteins in neuronal BAF complex (nBAF) | 14, 15 |
| SMARCC1 | BAF155 | 3p31.21 | Autism (rare mutation) | Component of SWI/SNF chromatin remodeling complex, and nBAF | ARID1A, ARID1B, SMARCC2, | 5 |
| SMARCC2 | BAF170 | 12q13.2 | Autism (rare mutation) | Component of SWI/SNF chromatin remodeling complex, and nBAF | ARID1A, SMARCC1, HDAC1/2 | 5 |
| JMJD1C | TRIP8 | 10q21.3 | Autism (rare mutation, translocation, abnormal methylation) | Histone demethylase for H3K9, hormone-dependent transcriptional activation | Thyroid hormone receptor, androgen receptor | 5, 25, 55, 56 |
| CHD8 | AUTS18 | 14q11.2 | autism (rare mutation), also rare autism variants in family members CHD1, CHD3, CHD7) | ATP-dependent chromatin helicase, negative regulator of Wnt signaling pathway by regulating beta-catenin (CTNNB1) | p53, histone H1, CTNNB1, CTCF, MLL complex proteins WDR5, RBBP5, CHD7 (mutated in CHARGE) | 5, 6, 16 |