Tbx1, a DiGeorge syndrome candidate gene, is regulated by sonic hedgehog during pharyngeal arch development

Vidu Garg, Chihiro Yamagishi, Tonghuan Hu, Irfan S. Kathiriya, Hiroyuki Yamagishi, Deepak Srivastava

Research output: Contribution to journalArticlepeer-review

259 Citations (Scopus)


Appropriate interactions between the epithelium and adjacent neural crest-derived mesenchyme are necessary for normal pharyngeal arch development. Disruption of pharyngeal arch development in humans underlies many of the craniofacial defects observed in the 22q11.2 deletion syndrome (del22q11), but the genes responsible remain unknown. Tbx1 is a T-box transcription factor that lies in the 22q11.2 locus. Tbx1 transcripts were found to be localized to the pharyngeal endoderm and the mesodermal core of the pharyngeal arches, but were not present in the neural crest-derived mesenchyme of the pharyngeal arches. Sonic hedgehog (Shh) is also expressed in the pharyngeal arches and is necessary for normal craniofacial development. We found that Tbx1 expression was dependent upon Shh signaling in mouse embryos, consistent with their overlapping expression in the pharyngeal arches. Furthermore, Shh was sufficient to induce Tbx1 expression when misexpressed in selected regions of chick embryos. These studies reveal a Shh-mediated pathway that regulates Tbx1 during pharyngeal arch development.

Original languageEnglish
Article number90283
Pages (from-to)62-73
Number of pages12
JournalDevelopmental Biology
Issue number1
Publication statusPublished - 2001
Externally publishedYes


  • 22q11.2 deletion syndrome
  • Pharyngeal arch
  • Sonic hedgehog
  • Tbx1
  • Transcription factor

ASJC Scopus subject areas

  • Molecular Biology
  • Developmental Biology
  • Cell Biology


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