| ncRNA name | CNOT3 siRNA |
| ncRNA Category | siRNA |
| Disease name | retinitis pigmentosa (RP) |
| Species | Homo sapiens |
| Tissues/Cell_line | human RPE cell line ARPE-19, lymphoblastoid cell lines |
| Methods | qRT-PCR, Western blot, siRNA transfection, CHIP assay, ultra-high-throughput sequencing |
| Expression pattern | associated |
| Functional description | In cultured cells, siRNA-mediated silencing of CNOT3 provoked an increase in PRPF31 expression, confirming a repressive nature of CNOT3 on PRPF31. We identify CNOT3 as the main modifier gene determining penetrance of PRPF31 mutations, via a mechanism of transcriptional repression. In asymptomatic carriers CNOT3 is expressed at low levels. |
| PubMed ID | 23144630 |
| Year | 2012 |
| Title | CNOT3 is a modifier of PRPF31 mutations in retinitis pigmentosa with incomplete penetrance. |
| Drug-related ncRNA | NO |
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