ArticleThe Journal of biological chemistry2013
An allelic series at the paired box gene 6 (Pax6) locus reveals the functional specificity of Pax genes.
Article in The Journal of biological chemistry, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 34 citations in OpenAlex.
- FGF-induced phospholipase Cγ signaling regulates lacrimal gland branching by competing with PI3K in phosphoinositide metabolism.Cell reports · 2025Article
- mTOR regulates Wnt signaling to promote tension-mediated lens vesicle closure.bioRxiv : the preprint server for biology · 2025Article
- Tbx2 and Tbx3 regulate cell fate progression of the otic vesicle for inner ear development.Developmental biology · 2023Article
- Paralogous Genes Involved in Embryonic Development: Lessons from the Eye and Other Tissues.Genes · 2022Review
- Chondroitin sulfate enhances the barrier function of basement membrane assembled by heparan sulfate.Development (Cambridge, England) · 2022Article
- Autoregulation of Pax6 in neuronal cells is mediated by Pax6(5a), Pax6(ΔPD), SPARC, and p53.Molecular biology reports · 2022Article
- Phase transition specified by a binary code patterns the vertebrate eye cup.Science advances · 2021Article
- Lacrimal gland budding requires PI3K-dependent suppression of EGF signaling.Science advances · 2021Article
- The rax homeobox gene is mutated in the eyeless axolotl, Ambystoma mexicanum.Developmental dynamics : an official publication of the American Association of Anatomists · 2021Article
- Etv transcription factors functionally diverge from their upstream FGF signaling in lens development.eLife · 2020Article
- BMP controls dorsoventral and neural patterning in indirect-developing hemichordates providing insight into a possible origin of chordates.Proceedings of the National Academy of Sciences of the United States of America · 2019Article
- Lens differentiation is controlled by the balance between PDGF and FGF signaling.PLoS biology · 2019Article
- FGF-induced Pea3 transcription factors program the genetic landscape for cell fate determination.PLoS genetics · 2018Article
- Alx4 relays sequential FGF signaling to induce lacrimal gland morphogenesis.PLoS genetics · 2017Article
- Functional non-coding polymorphism in an EPHA2 promoter PAX2 binding site modifies expression and alters the MAPK and AKT pathways.Scientific reports · 2017Article
- The Pax gene family: Highlights from cephalopods.PloS one · 2017Article
- Targeting of Ras-mediated FGF signaling suppresses Pten-deficient skin tumor.Proceedings of the National Academy of Sciences of the United States of America · 2016Article
- Retinal Proteoglycans Act as Cellular Receptors for Basement Membrane Assembly to Control Astrocyte Migration and Angiogenesis.Cell reports · 2016Article
- Transcriptional and epigenetic mechanisms of early cortical development: An examination of how Pax6 coordinates cortical development.The Journal of comparative neurology · 2016Review
- The human brain and face: mechanisms of cranial, neurological and facial development revealed through malformations of holoprosencephaly, cyclopia and aberrations in chromosome 18.Journal of anatomy · 2015Article
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
Abstract
The advent of the ocular and nervous system in metazoan evolution coincides with the diversification of a single ancestral paired box (Pax) gene into Pax6, Pax6(5a), and Pax2. To investigate the role of these Pax genes in neural development, we have generated an allelic series of knock-in models at the Pax6 locus. We showed that although Pax6(5a) and Pax2 could not replace Pax6 for its autoregulation in lens induction or for neural differentiation in retina, Pax6(5a) was sufficient for corneal-lenticular detachment. In brain development, cell proliferation in the cerebral cortex and dorsoventral patterning of the telencephalon and neural tube were partially rescued in either knock-in mutant. Contrary to the previous belief, our genetic studies showed that the Pax6 isoform Pax6(5a) could potentially play a role in neuronal differentiation in brain development. Importantly, Pax2 showed greater rescue efficiency than Pax6(5a) in the telencephalon even though the latter was identical to Pax6 outside the paired domain. In studying Ngn2, a Pax6 direct target gene in telencephalon, we showed that the level of Ngn2 expression correlated with the in vitro binding of Pax2, Pax6, and Pax6(5a) paired domain on its enhancer. Our results show that Pax6 is uniquely required for eye development, but in brain development, Pax6 can be functionally substituted by related Pax family genes that share a similar paired domain binding specificity.
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