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Figure 2 | BMC Molecular Biology

Figure 2

From: Functional and cellular characterization of human Retinoic Acid Induced 1 (RAI1) mutations associated with Smith-Magenis Syndrome

Figure 2

Evaluation of truncated proteins. A) Schematic representation of the two truncated RAI1 proteins generated by the deletion of a C in positions 2687 and 3103, plus RAI1 R960X. In blue is represented the Poly-Gln domain, in yellow: Poly-Ser domains, in black: in silico described NLS, in slanted lines: the PHD domain. The coding sequence for HA epitope is represented in red. B) Molecular weight for all truncated proteins was calculated by western blot analysis utilizing anti RAI1 antibody in transfected Neuro-2a cells. The molecular weight obtained for 2687delC, 3103delC and R960X is indicated. e/v: cells transfected with empty vector; u/t: untransfected Neuro-2a cells. C) The percentages of activation for the proteins 2687delC (white), 3103delC (grey) and R960X (light grey) are represented. The wild type (black) is considered as 100% of transcription activity. Values represent mean +/- SEM. (*: P ≤ 0.01). D) Immunofluorescence was performed with anti RAI1 antibody (green). Nuclei were stained with DAPI. The table represents a summary of the subcellular localization found in 200 cells. α = antibody against RAI1.

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