ArticleNucleic acids research2001
Activation of the human PAX6 gene through the exon 1 enhancer by transcription factors SEF and Sp1.
Article in Nucleic acids research, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 28 citations in OpenAlex.
- Post-replicative initial expression of PAX6 during neuroectoderm differentiation.The EMBO journal · 2025Article
- MeCP2 dysfunction prevents proper BMP signaling and neural progenitor expansion in brain organoid.Annals of clinical and translational neurology · 2023Article
- TET proteins safeguard bivalent promoters from de novo methylation in human embryonic stem cells.Nature genetics · 2018Article
- Identification of different mechanisms leading to PAX6 down-regulation as potential events contributing to the onset of Hirschsprung disease.Scientific reports · 2016Article
- Retinoic Acid Induces Ubiquitination-Resistant RIP140/LSD1 Complex to Fine-Tune Pax6 Gene in Neuronal Differentiation.Stem cells (Dayton, Ohio) · 2016Article
- PAX6 MiniPromoters drive restricted expression from rAAV in the adult mouse retina.Molecular therapy. Methods & clinical development · 2016Article
- DNA Methylation in the Exon 1 Region and Complex Regulation of Twist1 Expression in Gastric Cancer Cells.PloS one · 2015Article
- LHX2 regulates the neural differentiation of human embryonic stem cells via transcriptional modulation of PAX6 and CER1.Nucleic acids research · 2013Article
- The transcription factor LSF: a novel oncogene for hepatocellular carcinoma.American journal of cancer research · 2012Article
- Neural crest cells organize the eye via TGF-β and canonical Wnt signalling.Nature communications · 2011Article
- Giant subependymoma developed in a patient with aniridia: analyses of PAX6 and tumor-relevant genes.Brain pathology (Zurich, Switzerland) · 2010Article
- Identification of genes conferring resistance to 5-fluorouracil.Proceedings of the National Academy of Sciences of the United States of America · 2009Article
- Congenital hydrocephalus associated with abnormal subcommissural organ in mice lacking huntingtin in Wnt1 cell lineages.Human molecular genetics · 2009Article
- A novel locus for autosomal dominant "uncomplicated" hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3.Human genetics · 2007Article
- The MH1 domain of Smad3 interacts with Pax6 and represses autoregulation of the Pax6 P1 promoter.Nucleic acids research · 2007Article
- Lineage-specific and ubiquitous biological roles of the mammalian transcription factor LSF.Gene · 2004Review
- The PAX6 gene is activated by the basic helix-loop-helix transcription factor NeuroD/BETA2.The Biochemical journal · 2003Article
- Mammalian transcription factor LSF is a target of ERK signaling.Journal of cellular biochemistry · 2003Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
PAX6 is a transcription factor that plays a major role in ocular morphogenesis. PAX6 is expressed in the eye, central nervous system and pancreas. Two alternative promoters, P0 and P1, which are differentially regulated during development, drive PAX6 transcription. We identified a 57 bp cis-regulatory element in exon 1 of the human PAX6 gene exon 1 enhancer (EIE). EIE enhances P1-driven PAX6 expression. Three regions in E1E (E1E-1, E1E-2 and E1E-3) have sequence similarities with binding sites of transcription factors ARP-1, Isl-1 and SEF, respectively. As shown by electrophoretic mobility shift assays, E1E-3, but not E1E-1 or E1E-2, bound to proteins in nuclear extracts of human glioma cells and transcription factor SEF bound to E1E-3. As shown by transient transfection experiments, deletion or site-specific mutations in E1E-3 dramatically decreased P1 promoter activity. Mutations in E1E-2, however, did not affect function of the P1 promoter. Co-transfection of SEF and PAX6 promoter-reporter constructs showed that SEF up-regulates PAX6 gene expression through the P1 promoter. Two Sp1 sites in the E1E region were also shown to be important by transient co-transfection assays. Data from immunoprecipitation and transient transfection assays demonstrated that SEF and Sp1 interacted in vitro and may act together in vivo to regulate PAX6 expression.
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