ArticleHuman molecular genetics2013
Bcl6a function is required during optic cup formation to prevent p53-dependent apoptosis and colobomata.
Article in Human molecular genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
20 citing papers in PubMed, 31 citations in OpenAlex.
- B Cell Lymphoma 6 (BCL6): A Conserved Regulator of Immunity and Beyond.International journal of molecular sciences · 2024Review
- Identification of Novel Coloboma Candidate Genes through Conserved Gene Expression Analyses across Four Vertebrate Species.Biomolecules · 2023Article
- The Contribution of the Zebrafish Model to the Understanding of Polycomb Repression in Vertebrates.International journal of molecular sciences · 2023Review
- BMP3 is a novel locus involved in the causality of ocular coloboma.Human genetics · 2022Article
- B cell lymphoma 6A regulates immune development and function in zebrafish.Frontiers in cellular and infection microbiology · 2022Article
- BCOR gene alterations in hematologic diseases.Blood · 2021Review
- Alternative splicing of medaka bcl6aa and its repression by Prdm1a and Prdm1b.Fish physiology and biochemistry · 2021Article
- Nf2 fine-tunes proliferation and tissue alignment during closure of the optic fissure in the embryonic mouse eye.Human molecular genetics · 2020Article
- Review
- An update on the genetics of ocular coloboma.Human genetics · 2019Review
- Expanding the phenotype of the X-linked BCOR microphthalmia syndromes.Human genetics · 2019Article
- Zebrafish mab21l2 mutants possess severe defects in optic cup morphogenesis, lens and cornea development.Developmental dynamics : an official publication of the American Association of Anatomists · 2019Article
- Ocular findings in a patient with oculofaciocardiodental (OFCD) syndrome and a novel BCOR pathogenic variant.International ophthalmology · 2018Article
- The cellular bases of choroid fissure formation and closure.Developmental biology · 2018Article
- Identification of novel prognosis-related genes associated with cancer using integrative network analysis.Scientific reports · 2018Article
- Regulatory networks in retinal ischemia-reperfusion injury.BMC genetics · 2015Article
- Multiple requirements of the focal dermal hypoplasia gene porcupine during ocular morphogenesis.The American journal of pathology · 2015Article
- The cavefish genome reveals candidate genes for eye loss.Nature communications · 2014Article
- Evidence of Germline Mosaicism for a Novel BCOR Mutation in Two Indian Sisters with Oculo-Facio-Cardio-Dental Syndrome.Molecular syndromology · 2014Article
- Mutation of SALL2 causes recessive ocular coloboma in humans and mice.Human molecular genetics · 2014Article
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 2 countries.
Funding
Abstract
Mutations in BCOR (Bcl6 corepressor) are found in patients with oculo-facio-cardio-dental (OFCD) syndrome, a congenital disorder affecting visual system development, and loss-of-function studies in zebrafish and Xenopus demonstrate a role for Bcor during normal optic cup development in preventing colobomata. The mechanism whereby BCOR functions during eye development to prevent colobomata is not known, but in other contexts it serves as a transcriptional corepressor that potentiates transcriptional repression by B cell leukemia/lymphoma 6 (BCL6). Here, we have explored the function of the zebrafish ortholog of Bcl6, Bcl6a, during eye development, and our results demonstrate that Bcl6a, like Bcor, is required to prevent colobomata during optic cup formation. Our data demonstrate that Bcl6a acts downstream of Vax1 and Vax2, known regulators of ventral optic cup formation and choroid fissure closure, and that bcl6a is a direct target of Vax2. Together, this regulatory network functions to repress p53 expression and thereby suppress apoptosis in the developing optic cup. Furthermore, our data demonstrate that Bcl6a functions cooperatively with Bcor, Rnf2 and Hdac1 in a common gene regulatory network that acts to repress p53 and prevent colobomata. Together, these data support a model in which p53-dependent apoptosis needs to be tightly regulated for normal optic cup formation and that Bcl6a, Bcor, Rnf2 and Hdac1 activities mediate this regulation.
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Registered trials
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.