Human RFX6 regulates endoderm patterning at the primitive gut tube stage.

ABSTRACT: Transcriptional factor RFX6 is known to be a causal gene of Mitchell-Riley syndrome (MRS), an autosomal recessive neonatal diabetes associated with pancreatic hypoplasia and intestinal atresia/malformation. The morphological defects are limited to posterior foregut and mid-hindgut endodermal lineages and do not occur in the anterior foregut lineage; the mechanism remains to be fully elucidated. In this study, we generated RFX6^+/eGFP heterozygous knockin and RFX6^eGFP/eGFP homozygous knockin/knockout human-induced pluripotent stem cell (hiPSC) lines and performed in vitro endoderm differentiation to clarify the role of RFX6 in early endoderm development. RFX6 expression was found to surge at the primitive gut tube (PGT) stage in comparison wi

SUBMITTER: Nakamura T 

PROVIDER: S-EPMC10794167 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature