| Title | Enhancer remodeling by OTX2 directs specification and patterning of mammalian definitive endoderm. |
| Publication Type | Journal Article |
| Year of Publication | 2025 |
| Authors | Ee L-S, Medina-Cano D, Goetzler E, Uyehara C, Schwarz C, Salataj E, Madhuranath S, Evans T, Hadjantonakis A-K, Apostolou E, Polyzos A, Vierbuchen T, Stadtfeld M |
| Journal | Dev Cell |
| Volume | 60 |
| Issue | 24 |
| Pagination | 3431-3445.e8 |
| Date Published | 2025 Dec 15 |
| ISSN | 1878-1551 |
| Keywords | Animals, Body Patterning, Cell Differentiation, Cell Lineage, Embryo, Mammalian, Endoderm, Enhancer Elements, Genetic, Gene Expression Regulation, Developmental, Humans, Mice, Otx Transcription Factors, Wnt Signaling Pathway |
| Abstract | The molecular mechanisms that drive essential patterning events in the mammalian embryo remain poorly understood. Analysis of transcription factor expression kinetics at peri-gastrulation stages of development suggest Otx2 as a candidate regulator of the definitive endoderm, the precursor of all gut-derived organs. Accordingly, timed OTX2 depletion in gastruloids or during directed differentiation results in abnormal definitive endoderm specification in mouse and human, characterized by altered expression of components and transcriptional targets of the canonical WNT signaling pathway, perturbed adhesion and migration programs, and de-repression of regulators of other lineages. These defects cumulate in impaired foregut formation. Mechanistically, OTX2 is required to activate a subset of endoderm-specific enhancers and to suppress select enhancers of other lineages, allowing timely exit from the primitive streak and correct specification of anterior endoderm. Our results establish OTX2 as an early gut regulator and suggest molecular principles underlying spatiotemporal cell identity conserved across germ layers and species. |
| DOI | 10.1016/j.devcel.2025.07.020 |
| Alternate Journal | Dev Cell |
| PubMed ID | 40834858 |
| PubMed Central ID | PMC12489875 |
| Grant List | P30 CA008748 / CA / NCI NIH HHS / United States R01 GM138635 / GM / NIGMS NIH HHS / United States T32 HL160520 / HL / NHLBI NIH HHS / United States R03 NS135564 / NS / NINDS NIH HHS / United States RM1 GM139738 / GM / NIGMS NIH HHS / United States R01 GM145864 / GM / NIGMS NIH HHS / United States |
