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Fig. 2

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ZDB-IMAGE-180820-9
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Figures for Madelaine et al., 2018
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Fig. 2

Functional validation of conserved CNEs enhancer activity and demonstration that the associated SNP can be a regulatory mutation. (A) Schematic of the transgenes carrying the protective and the risk alleles. (B) Confocal projections of EGFP immunolabeling in Tg(CNE1:egfp), Tg(CNE8:egfp), Tg(CNE10:egfp), Tg(CNE15:egfp) and Tg(CNE18:egfp), demonstrating the specific enhancer activity of these human CNEs in zebrafish. (CE) The sequence surrounding rs17421627, rs1568679 and rs16932455 are conserved during evolution. (C) Confocal sections of EGFP immunolabeling in Tg(CNE1:egfp) containing the protective allele or Tg(CNE1SNP:egfp) containing the risk allele (rs17421627) in the adult retina immunolabeled with glutamine synthetase (GS). (D) Confocal projections of EGFP immunolabeling in Tg(CNE8:egfp) containing the protective allele or Tg(CNE8SNP:egfp) containing the risk allele (rs1568679) in the brain of olig2:dsred2 transgenic larvae at 72 hpf. (E) Confocal projections of EGFP immunolabeling in Tg(CNE18:egfp) containing the protective allele or Tg(CNE18SNP:egfp) containing the risk allele (rs16932455) in retina immunolabeled with HuC/D at 48 hpf. Dorsal view of the brain with anterior up. Lateral view of the retina. Scale bars: 100 μm.

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