Close sequence comparisons are sufficient to identify human cis-regulatory elements

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Figure 3.
Figure 3.

DACH1 locus: Identification of long-range embryonic enhancers by extreme human–rodent CNSs with no conservation in fish. The Gumby human–mouse–rat conservation plot in the lower half of the figure depicts 784 CNSs (red vertical bars) in a 2-Mb genomic region containing the DACH1 gene, many of which have extremely low P-values. Blue ticks below the line mark DACH1 exons. Six of the human–rodent CNSs with P-value < 1e-50 and no conservation in fish were tested for enhancer activity at embryonic day 11.5–12.5; the resulting positives and negatives are marked by (+) and (−) symbols, respectively. The identified enhancers drove reproducible β-galactosidase expression in limbs, eyes, and brain, consistent with the endogenous expression domains of DACH1.

This Article

  1. Genome Res. 16: 855-863

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