ArticleNucleic acids research2004
Functional interactions between alternatively spliced forms of Pax6 in crystallin gene regulation and in haploinsufficiency.
Article in Nucleic acids research, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers.
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Who cites it
39 citing papers in PubMed, 66 citations in OpenAlex.
- Review
- Cell fate decisions, transcription factors and signaling during early retinal development.Progress in retinal and eye research · 2022Review
- Crystallin gene expression: Insights from studies of transcriptional bursting.Experimental eye research · 2021Review
- Overview of PAX gene family: analysis of human tissue-specific variant expression and involvement in human disease.Human genetics · 2021Review
- The Spectrum ofGenes · 2019Review
- Tissue-Specific Actions of Pax6 on Proliferation and Differentiation Balance in Developing Forebrain Are Foxg1 Dependent.iScience · 2018Article
- Identification of Novel Gata3 Distal Enhancers Active in Mouse Embryonic Lens.Developmental dynamics : an official publication of the American Association of Anatomists · 2018Article
- Signaling and Gene Regulatory Networks in Mammalian Lens Development.Trends in genetics : TIG · 2017Review
- Evolutionary Origins of Pax6 Control of Crystallin Genes.Genome biology and evolution · 2017Article
- Canonical and alternative transcript expression of PAX6 and CXCR4 in pancreatic cancer.Oncology letters · 2017Article
- Regulation of c-Maf and αA-Crystallin in Ocular Lens by Fibroblast Growth Factor Signaling.The Journal of biological chemistry · 2016Article
- Pax6 associates with H3K4-specific histone methyltransferases Mll1, Mll2, and Set1a and regulates H3K4 methylation at promoters and enhancers.Epigenetics & chromatin · 2016Article
- RNA-seq analysis of impact of PNN on gene expression and alternative splicing in corneal epithelial cells.Molecular vision · 2016Article
- Identification of in vivo DNA-binding mechanisms of Pax6 and reconstruction of Pax6-dependent gene regulatory networks during forebrain and lens development.Nucleic acids research · 2015Article
- Chromatin features, RNA polymerase II and the comparative expression of lens genes encoding crystallins, transcription factors, and autophagy mediators.Molecular vision · 2015Article
- Gene regulation by PAX6: structural-functional correlations of missense mutants and transcriptional control of Trpm3/miR-204.Molecular vision · 2014Article
- Article
- Mammalian TBX1 preferentially binds and regulates downstream targets via a tandem T-site repeat.PloS one · 2014Article
- Identification and characterization of FGF2-dependent mRNA: microRNA networks during lens fiber cell differentiation.G3 (Bethesda, Md.) · 2013Article
- Histone posttranslational modifications and cell fate determination: lens induction requires the lysine acetyltransferases CBP and p300.Nucleic acids research · 2013Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
Pax6 is essential for development of the eye, olfactory system, brain and pancreas. Haploinsufficiency of Pax6 causes abnormal eye development. Two forms of Pax6 protein, PAX6 and PAX6(5a), differ in a 14 amino acid insertion encoded by an alternatively spliced exon 5a in the N-terminal DNA-binding paired domain (PD), and they are simultaneously expressed. Here, we show that PAX6 and PAX6(5a) together synergistically activate transcription from promoters recognized by Pax6 PD and PD5a, but not by their homeodomain. This synergism promotes activation of transcription by c-Maf and MafA on the alphaB-crystallin promoter, and is required for transcriptional co-activation by RARbeta/RXRbeta and PAX6/PAX6(5a) on the gammaF-crystallin promoter. To determine the role of this synergism in haploinsufficiency, we tested four human missense (G18W, R26G, G64V and R128C) and one nonsense (R317X) mutants, with reporters driven by Pax6 PD consensus binding sites and the alphaB-crystallin promoter. The simultaneous activity of Pax6 proteins [PAX6, mutated PAX6, PAX6(5a) and mutated PAX6(5a)] modeling haploinsufficiency yielded results not predicted by properties of individual PAX6 or PAX6(5a). Taken together, these results indicate that complex ocular phenotypes due to Pax6 haploinsufficiency originate, at least partially, from functional interactions between alternatively spliced PAX6 and PAX6(5a) variants and other factors, e.g. MafA/c-Maf.
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