ArticleProceedings of the National Academy of Sciences of the United States of America2002
Iris hypoplasia in mice that lack the alternatively spliced Pax6(5a) isoform.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers.
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Who cites it
35 citing papers in PubMed, 76 citations in OpenAlex.
- Outer retinal tubulation associated with photoreceptor degeneration.Progress in retinal and eye research · 2026Review
- Reduction of lens size in PAX6-related aniridia.Experimental eye research · 2024Article
- Congenital aniridia beyond black eyes: From phenotype and novel genetic mechanisms to innovative therapeutic approaches.Progress in retinal and eye research · 2023Review
- The retinal pigment epithelium: Development, injury responses, and regenerative potential in mammalian and non-mammalian systems.Progress in retinal and eye research · 2021Review
- The genetic architecture of aniridia and Gillespie syndrome.Human genetics · 2019Review
- Article
- Hedgehog signaling regulates cell motility and optic fissure and stalk formation during vertebrate eye morphogenesis.Development (Cambridge, England) · 2018Article
- Implication of non-coding PAX6 mutations in aniridia.Human genetics · 2018Article
- Phenotypic Variation in a Four-Generation Family with Aniridia Carrying a NovelJournal of ophthalmology · 2018Article
- Pax6 is essential for the generation of late-born retinal neurons and for inhibition of photoreceptor-fate during late stages of retinogenesis.Developmental biology · 2017Article
- Canonical and alternative transcript expression of PAX6 and CXCR4 in pancreatic cancer.Oncology letters · 2017Article
- Analysis of compound heterozygotes reveals that the mouse floxed Pax6 (tm1Ued) allele produces abnormal eye phenotypes.Transgenic research · 2016Article
- RNA-binding proteins in eye development and disease: implication of conserved RNA granule components.Wiley interdisciplinary reviews. RNA · 2016Review
- Cephalopod eye evolution was modulated by the acquisition of Pax-6 splicing variants.Scientific reports · 2014Article
- An allelic series at the paired box gene 6 (Pax6) locus reveals the functional specificity of Pax genes.The Journal of biological chemistry · 2013Article
- The expression of Pax6 variants is subject to posttranscriptional regulation in the developing mouse eyelid.PloS one · 2013Article
- 3T3 cell lines stably expressing Pax6 or Pax6(5a)--a new tool used for identification of common and isoform specific target genes.PloS one · 2012Article
- Alternative splicing: a potential source of functional innovation in the eukaryotic genome.International journal of evolutionary biology · 2012Article
- The orchestration of mammalian tissue morphogenesis through a series of coherent feed-forward loops.The Journal of biological chemistry · 2011Article
- PAX6 is expressed in pancreatic cancer and actively participates in cancer progression through activation of the MET tyrosine kinase receptor gene.The Journal of biological chemistry · 2009Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
PAX6 is an evolutionarily conserved transcription factor that plays a critical role in vertebrate and invertebrate eye formation. Heterozygous null mutations in the PAX6 gene result in aniridia in humans and a distinct small eye syndrome in rodents. Vertebrates primarily express two alternatively spliced isoforms of Pax6 that differ by the presence or absence of exon 5a (e5A) that encodes an additional 14 aa residues within the paired domain. The e5a-containing isoform, PAX6(5a), is specific to and conserved in vertebrates. To determine the role of PAX6(5a), we have generated mice that lack e5a of the Pax6 gene. Unlike Pax6 null mice that exhibit anopthalmia with central nervous system defects and lethality, 5a isoform-null mice have iris hypoplasia and defects in the cornea, lens, and retina. Although invertebrates have structures that respond to light intensity and act to restrict light exposure of the eyes, a significant and distinct feature of the vertebrate eye is its ability to regulate the amount of incoming light through contractile pupils. This feature of the eye not only allows vertebrates to see in various light conditions but also enhances image resolution. The requirement of the 5a isoform in iris formation suggests that the evolution of this isoform contributed to advanced features of the vertebrate eye.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.