ArticleMolecular and cellular biology1995
Identification and characterization of a neuroretina-specific enhancer element in the quail Pax-6 (Pax-QNR) gene.
Article in Molecular and cellular biology, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 60 citations in OpenAlex.
- Unique activities of two overlappingLife science alliance · 2023Article
- Congenital aniridia beyond black eyes: From phenotype and novel genetic mechanisms to innovative therapeutic approaches.Progress in retinal and eye research · 2023Review
- Cell fate decisions, transcription factors and signaling during early retinal development.Progress in retinal and eye research · 2022Review
- PAX6, modified by SUMOylation, plays a protective role in corneal endothelial injury.Cell death & disease · 2020Article
- Lampreys, the jawless vertebrates, contain three Pax6 genes with distinct expression in eye, brain and pancreas.Scientific reports · 2019Article
- The Spectrum ofGenes · 2019Review
- Article
- Disruption of autoregulatory feedback by a mutation in a remote, ultraconserved PAX6 enhancer causes aniridia.American journal of human genetics · 2013Review
- Sequencing of Pax6 loci from the elephant shark reveals a family of Pax6 genes in vertebrate genomes, forged by ancient duplications and divergences.PLoS genetics · 2013Article
- Expression of zebrafish pax6b in pancreas is regulated by two enhancers containing highly conserved cis-elements bound by PDX1, PBX and PREP factors.BMC developmental biology · 2008Article
- Subfunctionalization of duplicated zebrafish pax6 genes by cis-regulatory divergence.PLoS genetics · 2008Article
- Functional characterization of the GDEP promoter and three enhancer elements in retinoblastoma and prostate cell lines.Medical oncology (Northwood, London, England) · 2008Article
- Long-range downstream enhancers are essential for Pax6 expression.Developmental biology · 2006Article
- Vax genes ventralize the embryonic eye.Genes & development · 2005Article
- Anterior eye development and ocular mesenchyme: new insights from mouse models and human diseases.BioEssays : news and reviews in molecular, cellular and developmental biology · 2004Review
- Involvement of poly (ADP-ribose)-polymerase in the Pax-6 gene regulation in neuroretina.Oncogene · 1999Article
- Complete sequencing of the Fugu WAGR region from WT1 to PAX6: dramatic compaction and conservation of synteny with human chromosome 11p13.Proceedings of the National Academy of Sciences of the United States of America · 1998Article
- The incidence of PAX6 mutation in patients with simple aniridia: an evaluation of mutation detection in 12 cases.Journal of medical genetics · 1997Article
- Quail Pax-6 (Pax-QNR) mRNAs are expressed from two promoters used differentially during retina development and neuronal differentiation.Molecular and cellular biology · 1995Article
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Using nuclear run-on assays, we showed that the tissue-specific expression of quail Pax-6 (Pax-QNR) P0-initiated mRNAs is due in part to regulation of the gene at the transcriptional level. Regulatory sequences governing neuroretina-specific expression of the P0-initiated mRNAs were investigated. By using reporter-based expression assays, we characterized a region within the Pax-QNR gene, located 7.5 kbp downstream from the P0 promoter, that functions as an enhancer in neuroretina cells but not in nonexpressing P0-initiated mRNA cells (quail embryo cells and quail retinal pigment epithelial cells). This enhancer element functioned in a position- and orientation-independent manner both on the Pax-QNR P0 promoter and the heterologous thymidine kinase promoter. Moreover, this enhancer element exhibited a developmental stage-specific activity during embryonic neuroretina development: in contrast to activity at day E7, the enhancer activity was very weak at day E5. This paralleled the level of expression of P0-initiated mRNAs observed at the same stages. Using footprinting, gel retardation, and Southwestern (DNA-protein) analysis, we demonstrated the existence of four neuroretina-specific nuclear protein-binding sites, involving multiple unknown factors. In addition we showed that the quail enhancer element is structurally and functionally conserved in mice. All of these results strongly suggest that this enhancer element may contribute to the neuroretina-specific transcriptional regulation of the Pax-6 gene in vivo.
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