ArticleDisease models & mechanisms2015
Variations in dysfunction of sister chromatid cohesion in esco2 mutant zebrafish reflect the phenotypic diversity of Roberts syndrome.
Article in Disease models & mechanisms, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 28 citations in OpenAlex.
- Roberts syndrome presenting with bilateral Cryptophthalmos: a case report.Oxford medical case reports · 2026Article
- The expression of establishment of cohesion 1 homolog 2 (ESCO2) in tumor cells and its research progress as a therapeutic target.European journal of medical research · 2025Review
- Engineering precision zebrafish alleles of human disease.bioRxiv : the preprint server for biology · 2025Article
- Limb reduction in an Esco2 cohesinopathy mouse model is mediated by p53-dependent apoptosis and vascular disruption.Nature communications · 2024Article
- Cohesin composition and dosage independently affect early development in zebrafish.Development (Cambridge, England) · 2024Article
- Zebrafish raptor mutation inhibits the activity of mTORC1, inducing craniofacial defects due to autophagy-induced neural crest cell death.Development (Cambridge, England) · 2024Article
- Transcriptome analysis of adenomyosis eutopic endometrium reveals molecular mechanisms involved in adenomyosis-related implantation failure and pregnancy disorders.Reproductive biology and endocrinology : RB&E · 2024Article
- Cohesin: an emerging master regulator at the heart of cardiac development.Molecular biology of the cell · 2023Article
- Reduced sister chromatid cohesion acts as a tumor penetrance modifier.PLoS genetics · 2022Article
- Esco2 and cohesin regulate CRL4 ubiquitin ligaseCell cycle (Georgetown, Tex.) · 2022Article
- Genetically induced redox stress occurs in a yeast model for Roberts syndrome.G3 (Bethesda, Md.) · 2022Article
- Prenatal diagnosis of Roberts syndrome in a Chinese family based on ultrasound findings and whole exome sequencing: a case report.BMC medical genomics · 2022Article
- The power of zebrafish models for understanding the co-occurrence of craniofacial and limb disorders.Genesis (New York, N.Y. : 2000) · 2021Review
- Zebrafish Models for Human Skeletal Disorders.Frontiers in genetics · 2021Review
- An ever-changing landscape in Roberts syndrome biology: Implications for macromolecular damage.PLoS genetics · 2020Review
- Establishment of cohesion 1 homolog 2 facilitates cell aggressive behaviors and induces poor prognosis in renal cell carcinoma.Journal of clinical laboratory analysis · 2020Article
- DNA damage induces Yap5-dependent transcription of ECO1/CTF7 in Saccharomyces cerevisiae.PloS one · 2020Article
- The role of p53 in developmental syndromes.Journal of molecular cell biology · 2019Review
- A cell cycle-coordinated Polymerase II transcription compartment encompasses gene expression before global genome activation.Nature communications · 2019Article
- Long-term survival after corrective surgeries in two patients with severe deformities due to Roberts syndrome: A Case report and review of the literature.Experimental and therapeutic medicine · 2018Article
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Authors and funding
7 authors at 3 institutions in 1 country.
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Abstract
Mutations in ESCO2, one of two establishment of cohesion factors necessary for proper sister chromatid cohesion (SCC), cause a spectrum of developmental defects in the autosomal-recessive disorder Roberts syndrome (RBS), warranting in vivo analysis of the consequence of cohesion dysfunction. Through a genetic screen in zebrafish targeting embryonic-lethal mutants that have increased genomic instability, we have identified an esco2 mutant zebrafish. Utilizing the natural transparency of zebrafish embryos, we have developed a novel technique to observe chromosome dynamics within a single cell during mitosis in a live vertebrate embryo. Within esco2 mutant embryos, we observed premature chromatid separation, a unique chromosome scattering, prolonged mitotic delay, and genomic instability in the form of anaphase bridges and micronuclei formation. Cytogenetic studies indicated complete chromatid separation and high levels of aneuploidy within mutant embryos. Amongst aneuploid spreads, we predominantly observed decreases in chromosome number, suggesting that either cells with micronuclei or micronuclei themselves are eliminated. We also demonstrated that the genomic instability leads to p53-dependent neural tube apoptosis. Surprisingly, although many cells required Esco2 to establish cohesion, 10-20% of cells had only weakened cohesion in the absence of Esco2, suggesting that compensatory cohesion mechanisms exist in these cells that undergo a normal mitotic division. These studies provide a unique in vivo vertebrate view of the mitotic defects and consequences of cohesion establishment loss, and they provide a compensation-based model to explain the RBS phenotypes.
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