Genomic deletion of a long-range bone enhancer misregulates sclerostin in Van Buchem disease

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Figure 5.
Figure 5.

Enhancer activity of evolutionarily conserved noncoding sequences from the Van Buchem deletion region. (A) Human/mouse genomic alignment generated using the zPicture alignment engine (http://zpicture.dcode.org/). Exons are in blue, untranslated regions in yellow, repetitive elements in green, and noncoding sequences in red (intragenic) or pink (intronic). Seven highly conserved elements (≥200 bp; ≥80% ID; ECR2–8) within VBΔ were tested in rat osteosarcoma (UMR-106) and kidney cells (293) for the ability to enhance luciferase expression from the SV40 promoter (B) or human SOST promoter (C). ECR5 activates the human SOST promoter in rat osteosarcoma cells (C), and drives the hsp68 promoter in the skeleton of E14.5 mouse embryos (D).

This Article

  1. Genome Res. 15: 928-935

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