Table 3.
Evidence for positive selection on genes associated with human neurogenetic sister-disorders, from maximum likelihood analyses
| Gene | Gene symbol | Lineage | −2ΔLn | Positively selected codons (posterior probability) |
|---|---|---|---|---|
| Pseudoautosomal region 1 | ||||
| Interleukin 3 receptor, alpha | IL3RA | Primate | 5.32* | None |
| GTP binding protein 6 | GTPBP6 | Primate | 8.04** | Leu 125 (0.982) |
| Acetylserotonin O-methyltransferase-like | ASTML | Primate | 6.20* | None |
| Purinergic receptor P2Y, G-protein coupled, 8 | P2R8Y | Primate | 9.82** | None |
| Velocardiofacial syndrome | ||||
| claudin 5 | CLDN5 | Primate | 6.70** | None |
| Guanine nucleotide binding protein, beta polypeptide 1-like | GNB1L | Primate | 4.86* | Ser 119 (0.961) |
| Zinc finger protein 74 | ZNF74 | Primate | 9.94** | Ala 84 (0.961) Thr 321 (0.991) |
| Catechol-O-methyltransferase | COMT | Primate | 8.02** | Pro 324 (0.972) |
| Ubiquitin fusion degradation 1 like | UFD1L | Human | 6.58* | His 221 (0.983) |
| Smith–Magenis syndrome | ||||
| Retinoic acid induced 1 | RAI1 | Primate | 5.68* | None |
| Williams syndrome | ||||
| Replication factor C 2 | RFC2 | Primate | 3.78 | None |
We focused on putatively causative genes where these were known from studies of single-gene mutations or atypical deletions (in Williams syndrome and Smith–Magenis syndrome), but where the causative genes were unknown (for Klinefelter, Turner, and Velocardiofacial syndromes) we analyzed all of the genes in the affected regions.