ArticleJournal of molecular medicine (Berlin, Germany)2006
Molecular dissection reveals decreased activity and not dominant negative effect in human OTX2 mutants.
Article in Journal of molecular medicine (Berlin, Germany), 2006. 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, 57 citations in OpenAlex.
- Article
- Disease-causing mutations in genes encoding transcription factors critical for photoreceptor development.Frontiers in molecular neuroscience · 2023Review
- Article
- Region Specific Brain Organoids to Study Neurodevelopmental Disorders.International journal of stem cells · 2022Review
- The phenotypic spectrum associated with OTX2 mutations in humans.European journal of endocrinology · 2021Article
- Induction of Functional Hypothalamus and Pituitary Tissues From Pluripotent Stem Cells for Regenerative Medicine.Journal of the Endocrine Society · 2021Review
- Congenital pituitary hypoplasia model demonstrates hypothalamic OTX2 regulation of pituitary progenitor cells.The Journal of clinical investigation · 2020Article
- A massively parallel reporter assay reveals context-dependent activity of homeodomain binding sites in vivo.Genome research · 2018Article
- Genome-Wide Target Analyses of Otx2 Homeoprotein in Postnatal Cortex.Frontiers in neuroscience · 2017Article
- A Simple Grammar Defines Activating and Repressing cis-Regulatory Elements in Photoreceptors.Cell reports · 2016Article
- Agnathia-otocephaly complex and asymmetric velopharyngeal insufficiency due to an in-frame duplication in OTX2.Journal of human genetics · 2015Article
- Otx2 and Oct4 drive early enhancer activation during embryonic stem cell transition from naive pluripotency.Cell reports · 2014Article
- Article
- Loss of Otx2 in the adult retina disrupts retinal pigment epithelium function, causing photoreceptor degeneration.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2013Article
- Molecular and Clinical Findings in Patients with LHX4 and OTX2 Mutations.Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2013Article
- OTX2 represses myogenic and neuronal differentiation in medulloblastoma cells.Cancer research · 2012Article
- ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous.Human molecular genetics · 2012Article
- Regulation of the human tyrosinase gene in retinal pigment epithelium cells: the significance of transcription factor orthodenticle homeobox 2 and its polymorphic binding site.Molecular vision · 2012Article
- Eye development genes and known syndromes.Molecular genetics and metabolism · 2011Review
- Transcriptional regulation of neural retina leucine zipper (Nrl), a photoreceptor cell fate determinant.The Journal of biological chemistry · 2011Article
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
The paired-type homeodomain transcription factor Otx2 is essential for forebrain and eye development. Severe ocular malformations in humans have recently been associated with heterozygous OTX2 mutations. To document the molecular defects in human mutants, Otx2 structural characterization was carried out. A collection of deletion and point mutants was created to perform transactivation, DNA binding, and subcellular localization analyses. Transactivation was ascribed to both N- and C-termini of the protein, and DNA binding to the minimal homeodomain, where critical amino acid residues were identified. Acute nuclear localization appeared controlled by a nuclear localization sequence located within the homeodomain which acts in conjunction with a novel nuclear retention domain that we unraveled located in the central part of the protein. This region, which is poorly conserved among Otx proteins, was also endowed with dominant negative activity suggesting that it might confer unique properties to Otx2. Molecular diagnostic of human mutant OTX2 proteins discriminates hypomorphic and loss of function mutations from other mutations that may not be relevant to ocular pathology.
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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.