Table 3.
RP causative genes differentially expressed in A2E-treated H-RPE cells. For each gene, the HUGO Gene Nomenclature Committee ID is indicated. The table also reports the RP phenotype linked to each locus, the role of the encoded protein in angiogenesis, and the expression values (as log2 FC) observed for each gene 3 and 6 h after A2E treatment. Not significant: gene expression change is not statistically significant. Not determined: no expression value detected by the analysis.
| Locus (HGCN ID) | RP Phenotype | Angiogenesis | Log2 FC 3 h_vs._0 h | Log2 FC 6 h_vs._0 h |
|---|---|---|---|---|
| AHR (348) | recessive | If depleted, enhances retinal angiogenesis [37] | −0.78173956 | −1.52949254 |
| PROM1 (9454) | recessive with macular degeneration | Expressed on EPCS; promotes neovascularization [38] | not significant | |
| MERTK (7027) | recessive | Promotes EC survival by inhibiting apoptosis [39] | not significant | |
| RPE65 (10294) | recessive | Overexpressed in RPE cells surrounding CNV [40] | not determined | |
| RHO (10012) | - dominant; - recessive |
If mutated, leads to retinal vessels atrophy following light exposure [41] | not significant | |
| NR2E3 (7974) | - recessive in Portuguese Crypto Jews; - dominant |
Regulates retinal neovascularization by targeting FLT1 [42] | not significant | |
| SEMA4A (10729) | dominant | In ECs, suppresses VEGF-mediated EC migration and proliferation by binding Plexin-D1 [43] | not significant | |
| ROM1 (10254) | dominant | GO Biological process: retina vasculature development in camera-type eye (GO:0061298) | 1.256611685 | 1.123121917 |
| PANK2 (15894) | recessive HARP (hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and palladial degeneration) | Required for normal development of angiogenetic properties in ECs [44] | not significant | |