Enhancer ID: | E_02_0872 |
Species: | human |
Position : | chr5:125345378-125345495 |
Biosample name: | |
Experiment class : | Low throughput |
Enhancer type: | Enhancer |
Disease: | Adult-onset autosomal dominant demyelinating leukodystrophy |
Pubmed ID: | 25701871 |
Enhancer experiment: | Luciferase Reporter Assay,4C,PCR |
Enhancer experiment description: | To test the predicted enhancers experimentally, we perfor-ed dual-luciferase reporter assays with constructs containing regions A, B, C or D, in direct or reverse orientation, upstream of the LMNB1 promoter . Following transfection of the constructs into HEK293T human cell line, regions A and B (in both orientations) signi?cantly increased luciferase expression (A forward = 1.97 0.2; A reverse = 1.8 1.6; B forward = 2.52 0.25; B reverse = 1.85 0.10; mean standard error; P < 0.01; Fig. 3C). In contrast, constructs containing regions C and D did not signi?cantly affect luciferase expression (Fig. 3C). Similar results were obtained when the same plasmids were transfected into NIH3T3 cell line (data not shown), suggesting that the enhancer activity of regions A and B could function across species, at least in mouse ?broblasts. Following these results, regions A and B were subsequently referred to as enhancer region A (Enh-A) and enhancer region B (Enh-B). |
Target gene : | LMNB1(ADLD,LMN,LMN2,LMNB) |
Strong evidence: | 4C |
Less strong evidence: | Luciferase Reporter Assay,PCR |
Target gene experiment description: | To test the predicted enhancers experimentally, we perfor-ed dual-luciferase reporter assays with constructs containing regions A, B, C or D, in direct or reverse orientation, upstream of the LMNB1 promoter . Following transfection of the constructs into HEK293T human cell line, regions A and B (in both orientations) signi?cantly increased luciferase expression (A forward = 1.97 0.2; A reverse = 1.8 1.6; B forward = 2.52 0.25; B reverse = 1.85 0.10; mean standard error; P < 0.01; Fig. 3C). In contrast, constructs containing regions C and D did not signi?cantly affect luciferase expression (Fig. 3C). Similar results were obtained when the same plasmids were transfected into NIH3T3 cell line (data not shown), suggesting that the enhancer activity of regions A and B could function across species, at least in mouse ?broblasts. Following these results, regions A and B were subsequently referred to as enhancer region A (Enh-A) and enhancer region B (Enh-B). |
TF name : | -- |
TF experiment: | -- |
TF experiment description: | -- |
Enhancer function : | -- |
Enhancer function experiment: | -- |
Enhancer function experiment description: |
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SNP ID: | -- |
GeneName | Pathway Name | Source | Gene Number |
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