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RFX6 regulates human intestinal patterning and function upstream of PDX1.

J Guillermo Sanchez1,2, Scott Rankin1,2, Emily Paul1,2

  • 1Division of Developmental Biology, Cincinnati Children's Hospital Medical Center, Cincinnati OH 45229, USA.

Development (Cambridge, England)
|April 8, 2024
PubMed
Summary

Rare gene variants in RFX6 cause congenital gastrointestinal malformations. This study reveals RFX6 regulates intestinal patterning via PDX1-dependent and independent pathways, crucial for proximal intestine development.

Keywords:
Endoderm patterningMitchell–Riley syndromeOrganoidsRFX6Small intestine

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Area of Science:

  • Developmental Biology
  • Genetics
  • Gastroenterology

Background:

  • Congenital gastrointestinal malformations arise from rare gene variants, but their molecular basis is poorly understood.
  • The gastrointestinal tract's complex development involves intricate patterning and signaling pathways.

Purpose of the Study:

  • To investigate the molecular mechanisms by which RFX6 variants cause duodenal malformations.
  • To elucidate the role of RFX6 in human intestinal development and regional identity.

Main Methods:

  • Generated patient-derived induced pluripotent stem cells and human intestinal organoids (HIOs).
  • Utilized CRISPR-mediated gene correction, gain- and loss-of-function studies, and transcriptomics in HIOs and Xenopus embryos.
  • Analyzed regional identity of HIOs and human tissues.

Main Results:

  • RFX6 variants led to mixed regional identity (gastric, ileal features) in duodenal HIOs and tissues.
  • CRISPR correction of RFX6 restored normal duodenal identity.
  • Identified PDX1 as a downstream target of RFX6 essential for duodenal development, alongside PDX1-independent pathways regulating GI tract regionalization.

Conclusions:

  • RFX6 is a critical regulator of intestinal patterning and regional identity in the proximal intestine.
  • RFX6 functions through both PDX1-dependent and independent transcriptional and signaling pathways to ensure proper GI tract development.