ArticlePLoS genetics2016
Intact Cohesion, Anaphase, and Chromosome Segregation in Human Cells Harboring Tumor-Derived Mutations in STAG2.
Article in PLoS genetics, 2016. 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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Who cites it
40 citing papers in PubMed, 57 citations in OpenAlex.
- Reduced STAG2 expression in myelodysplastic neoplasms and acute myeloid leukemia myelodysplasia-related: a potential biomarker associated with aneuploidy and disease progression.Frontiers in cell and developmental biology · 2026Article
- The enigma of the B chromosome-specific behaviour.Frontiers in plant science · 2026Review
- Sorghum embryos undergoing B chromosome elimination express B-variants of mitotic-related genes.Genome biology · 2025Article
- STAG2-truncating variants reveal a mosaic STAG2 inactivation pattern and compensatory mechanisms involving cohesin complex remodeling.iScience · 2025Article
- Aberrant cohesin function in Saccharomyces cerevisiae activates Mcd1 degradation to promote cell lethality.PLoS genetics · 2025Article
- Aberrant cohesin function inbioRxiv : the preprint server for biology · 2025Article
- Clinically associated genomic landscape of pediatric non-Down Syndrome acute megakaryoblastic leukemia in Chinese patients.Leukemia · 2025Article
- Emerging roles of cohesin-STAG2 in cancer.Oncogene · 2025Review
- STAG2 regulates polycomb and differentiation in urothelial precursors and bladder cancer.PloS one · 2025Article
- Review
- Role of chromosomal cohesion and separation in aneuploidy and tumorigenesis.Cellular and molecular life sciences : CMLS · 2024Review
- STAG2 inactivation reprograms glutamine metabolism of BRAF-mutant thyroid cancer cells.Cell death & disease · 2023Article
- Identification of STAG2-Mutant Bladder Cancers by Immunohistochemistry.Methods in molecular biology (Clifton, N.J.) · 2023Article
- Stromal Antigen 2 Deficiency Induces Interferon Responses and Restricts Porcine Deltacoronavirus Infection.Viruses · 2022Article
- The Interplay of Cohesin and RNA Processing Factors: The Impact of Their Alterations on Genome Stability.International journal of molecular sciences · 2022Review
- The multifaceted roles of cohesin in cancer.Journal of experimental & clinical cancer research : CR · 2022Review
- Generation of scalable cancer models by combining AAV-intron-trap, CRISPR/Cas9, and inducible Cre-recombinase.Communications biology · 2021Article
- Cohesin Mutations in Cancer: Emerging Therapeutic Targets.International journal of molecular sciences · 2021Review
- Functional impact of cancer-associated cohesin variants on gene expression and cellular identity.Genetics · 2021Article
- A cohesin cancer mutation reveals a role for the hinge domain in genome organization and gene expression.PLoS genetics · 2021Article
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
Abstract
Somatic mutations of the cohesin complex subunit STAG2 are present in diverse tumor types. We and others have shown that STAG2 inactivation can lead to loss of sister chromatid cohesion and alterations in chromosome copy number in experimental systems. However, studies of naturally occurring human tumors have demonstrated little, if any, correlation between STAG2 mutational status and aneuploidy, and have further shown that STAG2-deficient tumors are often euploid. In an effort to provide insight into these discrepancies, here we analyze the effect of tumor-derived STAG2 mutations on the protein composition of cohesin and the expected mitotic phenotypes of STAG2 mutation. We find that many mutant STAG2 proteins retain their ability to interact with cohesin; however, the presence of mutant STAG2 resulted in a reduction in the ability of regulatory subunits WAPL, PDS5A, and PDS5B to interact with the core cohesin ring. Using AAV-mediated gene targeting, we then introduced nine tumor-derived mutations into the endogenous allele of STAG2 in cultured human cells. While all nonsense mutations led to defects in sister chromatid cohesion and a subset induced anaphase defects, missense mutations behaved like wild-type in these assays. Furthermore, only one of nine tumor-derived mutations tested induced overt alterations in chromosome counts. These data indicate that not all tumor-derived STAG2 mutations confer defects in cohesion, chromosome segregation, and ploidy, suggesting that there are likely to be other functional effects of STAG2 inactivation in human cancer cells that are relevant to cancer pathogenesis.
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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.