ArticleStem cell research & therapy2021
A novel mutation of SATB2 inhibits odontogenesis of human dental pulp stem cells through Wnt/β-catenin signaling pathway.
Article in Stem cell research & therapy, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
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12 citing papers in PubMed, 1 synthesis or guideline pooled it, 15 citations in OpenAlex.
- Flow Cytometry Illuminates Dental Stem Cells: a Systematic Review of Immunomodulatory and Regenerative Breakthroughs.Stem cell reviews and reports · 2025Pooled it
- SATB2 promotes osteogenic differentiation of OPLL-derived posterior longitudinal ligament cells via Wnt/β-catenin signaling in association with RUNX2.European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society · 2026Article
- [Progress in regulating stem cell functions for repair and regeneration of craniomaxillofacial tissues].Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences · 2026Review
- Special AT-rich sequence binding protein 2 (SATB2), β-catenin, and CD10 immunohistochemistry provides insights into the histopathologic features and cellular differentiation of adenomatoid odontogenic tumor.Journal of dental sciences · 2026Article
- Astragaloside IV inhibits nasopharyngeal carcinoma progression by suppressing the SATB2/Wnt signaling axis.Toxicology research · 2025Article
- Role and mechanisms of histone methylation in osteogenic/odontogenic differentiation of dental mesenchymal stem cells.International journal of oral science · 2025Review
- Human colon organoid differentiation from induced pluripotent stem cells using an improved method.FEBS letters · 2025Article
- Immunohistochemical Expression of MDM2, Bcl-2, SATB2 and Ki-67 in Histological Variants of Unicystic Ameloblastoma.Head and neck pathology · 2024Article
- Mechanism and application of feedback loops formed by mechanotransduction and histone modifications.Genes & diseases · 2024Review
- Wnt1 induces osteoblastic changes in a well-established osteolytic skeletal metastatic model derived from breast cancer.Cancer reports (Hoboken, N.J.) · 2023Article
- The odontoblastic differentiation of dental mesenchymal stem cells: molecular regulation mechanism and related genetic syndromes.Frontiers in cell and developmental biology · 2023Review
- Effects of different signaling pathways on odontogenic differentiation of dental pulp stem cells: a review.Frontiers in physiology · 2023Review
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundSATB2-associated syndrome (SAS) is a multisystem disorder caused by mutation of human SATB2 gene. Tooth agenesis is one of the most common phenotypes observed in SAS. Our study aimed at identifying novel variant of SATB2 in a patient with SAS, and to investigate the cellular and molecular mechanism of tooth agenesis caused by SATB2 mutation.
methodsWe applied whole exome sequencing (WES) to identify the novel mutation of SATB2 in a Chinese patient with SAS. Construction and overexpression of wild-type and the mutant vector was performed, followed by functional analysis including flow cytometry assay, fluorescent immunocytochemistry, western blot, quantitative real-time PCR and Alizarin Red S staining to investigate its impact on hDPSCs and the underlying mechanisms.
resultsAs a result, we identified a novel frameshift mutation of SATB2 (c. 376_378delinsTT) in a patient with SAS exhibiting tooth agenesis. Human DPSCs transfected with mutant SATB2 showed decreased cell proliferation and odontogenic differentiation capacity compared with hDPSCs transfected with wild-type SATB2 plasmid. Mechanistically, mutant SATB2 failed to translocate into nucleus and distributed in the cytoplasm, failing to activate Wnt/β-catenin signaling pathway, whereas the wild-type SATB2 translocated into the nucleus and upregulated the expression of active β-catenin. When we used Wnt inhibitor XAV939 to treat hDPSCs transfected with wild-type SATB2 plasmid, the increased odontogenic differentiation capacity was attenuated. Furthermore, we found that SATB2 mutation resulted in the upregulation of DKK1 and histone demethylase JHDM1D to inhibit Wnt/β-catenin signaling pathway.
conclusionWe identified a novel frameshift mutation of SATB2 (c.376_378delinsTT, p.Leu126SerfsX6) in a Chinese patient with SATB2-associated syndrome (SAS) exhibiting tooth agenesis. Mechanistically, SATB2 regulated osteo/odontogenesis of human dental pulp stem cells through Wnt/β-catenin signaling pathway by regulating DKK1 and histone demethylase JHDM1D.
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