Table 1. Cavefish genes with significant promoter hypermethylation and reduced expression are associated with human eye disorders.
Nineteen genes with both substantially increased methylation within the 2 Kb of genomic DNA upstream from the transcriptional start site (≥ 15% increase, p ≤ 0.05) and substantially decreased gene expression (fold decrease ≤ 1.5, p ≤ 0.05) in CF eyes compared to SF eyes that have also been linked to human eye disorders.
| Eye Gene | Log2 Fold Change in Gene Expression | Change in Promoter Methylation (%) | Associated Human Eye Disease |
|---|---|---|---|
| STX3 | -2.6545922 | 15.0532125 | Microvillus inclusion disease |
| IMPG1 | -2.0676398 | 15.7283333 | Macular dystrophy |
| GNB3 | -2.1535092 | 15.7549858 | Congenital nigh blindness |
| RS1 | -4.8162527 | 16.2271036 | Retinoschisis |
| ELOVL4 | -2.7387552 | 16.9231332 | Stargard disease |
| TRPM1 | -1.5194777 | 17.1153846 | Congenital night blindness |
| KCNV2 | -2.6133734 | 19.2768429 | Retinal cone dystrophy |
| HEPACAM | -1.292728 | 19.2838136 | Macrocephaly |
| CRX | -1.3492741 | 20.3620072 | Retinitis pigmentosa |
| PDE6H | -2.4364817 | 20.8408953 | Retinal cone dystrophy |
| PRPH2 | -4.6162474 | 21.9236441 | Retinitis pigmentosa |
| TMEM98 | -1.3082467 | 23.6850216 | Nanophthalmia |
| GRK1 | -4.3915902 | 24.7866469 | Oguchi disease |
| MYO7A | -1.342215 | 31.2060616 | Usher syndrome |
| ATP6V0A1 | -1.4653532 | 32.7039627 | Macroautophagy |
| TDRD7 | -1.8275097 | 34.9881388 | Cataract |
| OPN1MW | -7.2622181 | 36.788428 | Cone rod dystrophy |
| CRYGB | -4.1315449 | 39.2857143 | Polar cataract |
| OPN1LW | -4.1525329 | 47.985771 | Cone rod dystrophy |