A genome-scale analysis of the cis-regulatory circuitry underlying sonic hedgehog-mediated patterning of the mammalian limb

Genes Dev. 2008 Oct 1;22(19):2651-63. doi: 10.1101/gad.1693008.

Abstract

Sonic hedgehog (Shh) signals via Gli transcription factors to direct digit number and identity in the vertebrate limb. We characterized the Gli-dependent cis-regulatory network through a combination of whole-genome chromatin immunoprecipitation (ChIP)-on-chip and transcriptional profiling of the developing mouse limb. These analyses identified approximately 5000 high-quality Gli3-binding sites, including all known Gli-dependent enhancers. Discrete binding regions exhibit a higher-order clustering, highlighting the complexity of cis-regulatory interactions. Further, Gli3 binds inertly to previously identified neural-specific Gli enhancers, demonstrating the accessibility of their cis-regulatory elements. Intersection of DNA binding data with gene expression profiles predicted 205 putative limb target genes. A subset of putative cis-regulatory regions were analyzed in transgenic embryos, establishing Blimp1 as a direct Gli target and identifying Gli activator signaling in a direct, long-range regulation of the BMP antagonist Gremlin. In contrast, a long-range silencer cassette downstream from Hand2 likely mediates Gli3 repression in the anterior limb. These studies provide the first comprehensive characterization of the transcriptional output of a Shh-patterning process in the mammalian embryo and a framework for elaborating regulatory networks in the developing limb.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Basic Helix-Loop-Helix Transcription Factors / genetics
  • Basic Helix-Loop-Helix Transcription Factors / physiology
  • Binding Sites / genetics
  • Body Patterning / genetics*
  • Body Patterning / physiology
  • Chromatin Immunoprecipitation
  • Cytokines
  • Enhancer Elements, Genetic
  • Extremities / embryology*
  • Female
  • Gene Regulatory Networks
  • Genetic Complementation Test
  • Genomics
  • Hedgehog Proteins / genetics*
  • Hedgehog Proteins / physiology
  • Intercellular Signaling Peptides and Proteins / genetics
  • Intercellular Signaling Peptides and Proteins / physiology
  • Kruppel-Like Transcription Factors / genetics
  • Kruppel-Like Transcription Factors / physiology
  • Mice
  • Mice, Transgenic
  • Models, Biological
  • Nerve Tissue Proteins / genetics
  • Nerve Tissue Proteins / physiology
  • Positive Regulatory Domain I-Binding Factor 1
  • Pregnancy
  • Signal Transduction
  • Transcription Factors / genetics
  • Transcription Factors / physiology
  • Zinc Finger Protein Gli3

Substances

  • Basic Helix-Loop-Helix Transcription Factors
  • Cktsf1b1 protein, mouse
  • Cytokines
  • Gli3 protein, mouse
  • Hand2 protein, mouse
  • Hedgehog Proteins
  • Intercellular Signaling Peptides and Proteins
  • Kruppel-Like Transcription Factors
  • Nerve Tissue Proteins
  • Prdm1 protein, mouse
  • Shh protein, mouse
  • Transcription Factors
  • Zinc Finger Protein Gli3
  • Positive Regulatory Domain I-Binding Factor 1