ArticleDevelopmental biology2015
Xenopus pax6 mutants affect eye development and other organ systems, and have phenotypic similarities to human aniridia patients.
Article in Developmental biology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers.
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40 citing papers in PubMed, 73 citations in OpenAlex.
- Signalling through RXRβ and its agonist, bexarotene, promotes neuron formation in Xenopus laevis embryos.Biology open · 2026Article
- Preclinical Models of Rare Corneal and Ocular Surface Diseases: a Comprehensive Narrative Review.Ophthalmology and therapy · 2026Review
- DuplicatedBiology · 2025Article
- PAX6 Downregulation Triggers HIF-1α-Mediated Ferroptosis in Glioma Cells.Biomolecules · 2025Article
- Molecular Mechanism of Metformin Regulating the Regeneration of PlanarianInternational journal of molecular sciences · 2025Article
- Itpka depletion implicates defects in anterior neural development ofFrontiers in cell and developmental biology · 2025Article
- Systematic review:Frontiers in medicine · 2025Review
- Article
- Temporal Transcriptomic Profiling of the DevelopingbioRxiv : the preprint server for biology · 2024Article
- Modelling human genetic disorders in Xenopus tropicalis.Disease models & mechanisms · 2024Review
- Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.Brain : a journal of neurology · 2024Article
- Reduction of lens size in PAX6-related aniridia.Experimental eye research · 2024Article
- Ancestral role of Pax6 in chordate brain regionalization.Frontiers in cell and developmental biology · 2024Article
- Genetic analysis of medaka fish illuminates conserved and divergent roles of Pax6 in vertebrate eye development.Frontiers in cell and developmental biology · 2024Article
- Prdm15 acts upstream of Wnt4 signaling in anterior neural development ofFrontiers in cell and developmental biology · 2024Article
- Japanese medaka Olpax6.1 mutant as a potential model for spondylo-ocular syndrome.Functional & integrative genomics · 2023Article
- Long-term outcomes in Primary congenital glaucoma, aniridia and anterior segment dysgenesis.European journal of ophthalmology · 2022Article
- Normal Table of Xenopus development: a new graphical resource.Development (Cambridge, England) · 2022Article
- PAX6-positive microglia evolve locally in hiPSC-derived ocular organoids.Stem cell reports · 2022Article
- The Ribosomal Protein L5 Functions DuringFrontiers in cell and developmental biology · 2022Article
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Authors and funding
11 authors at 3 institutions in 2 countries.
Funding
Abstract
Mutations in the Pax6 gene cause ocular defects in both vertebrate and invertebrate animal species, and the disease aniridia in humans. Despite extensive experimentation on this gene in multiple species, including humans, we still do not understand the earliest effects on development mediated by this gene. This prompted us to develop pax6 mutant lines in Xenopus tropicalis taking advantage of the utility of the Xenopus system for examining early development and in addition to establish a model for studying the human disease aniridia in an accessible lower vertebrate. We have generated mutants in pax6 by using Transcription Activator-Like Effector Nuclease (TALEN) constructs for gene editing in X. tropicalis. Embryos with putative null mutations show severe eye abnormalities and changes in brain development, as assessed by changes in morphology and gene expression. One gene that we found is downregulated very early in development in these pax6 mutants is myc, a gene involved in pluripotency and progenitor cell maintenance and likely a mediator of some key pax6 functions in the embryo. Changes in gene expression in the developing brain and pancreas reflect other important functions of pax6 during development. In mutations with partial loss of pax6 function eye development is initially relatively normal but froglets show an underdeveloped iris, similar to the classic phenotype (aniridia) seen in human patients with PAX6 mutations. Other eye abnormalities observed in these froglets, including cataracts and corneal defects, are also common in human aniridia. The frog model thus allows us to examine the earliest deficits in eye formation as a result of pax6 lesions, and provides a useful model for understanding the developmental basis for the aniridia phenotype seen in humans.
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