ArticleClinical chemistry2009
Rapid flow cytometry-based structural maintenance of chromosomes 1 (SMC1) phosphorylation assay for identification of ataxia-telangiectasia homozygotes and heterozygotes.
Article in Clinical chemistry, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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18 citing papers in PubMed, 41 citations in OpenAlex.
- Biomarkers of DNA Damage Response Enable Flow Cytometry-Based Diagnostic to Identify Inborn DNA Repair Defects in Primary Immunodeficiencies.Journal of clinical immunology · 2022Article
- Ataxia telangiectasia mutated germline pathogenic variant in adrenocortical carcinoma.Cancer genetics · 2021Article
- Application of a radiosensitivity flow assay in a patient with DNA ligase 4 deficiency.Blood advances · 2018Article
- Utility of DNA, RNA, Protein, and Functional Approaches to Solve Cryptic Immunodeficiencies.Journal of clinical immunology · 2018Article
- Gene expression signatures but not cell cycle checkpoint functions distinguish AT carriers from normal individuals.Physiological genomics · 2013Article
- A new series of small molecular weight compounds induce read through of all three types of nonsense mutations in the ATM gene.Molecular therapy : the journal of the American Society of Gene Therapy · 2013Article
- p53 centrosomal localization diagnoses ataxia-telangiectasia homozygotes and heterozygotes.The Journal of clinical investigation · 2013Article
- An autonomous chromatin/DNA-PK mechanism for localized DNA damage signaling in mammalian cells.Nucleic acids research · 2013Article
- SMRT compounds abrogate cellular phenotypes of ataxia telangiectasia in neural derivatives of patient-specific hiPSCs.Nature communications · 2013Article
- SMRT compounds correct nonsense mutations in primary immunodeficiency and other genetic models.Annals of the New York Academy of Sciences · 2012Review
- Comprehensive profiling of radiosensitive human cell lines with DNA damage response assays identifies the neutral comet assay as a potential surrogate for clonogenic survival.Radiation research · 2012Article
- Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia.Human mutation · 2012Article
- Blood-based detection of radiation exposure in humans based on novel phospho-Smc1 ELISA.Radiation research · 2011Article
- ATM is down-regulated by N-Myc-regulated microRNA-421.Proceedings of the National Academy of Sciences of the United States of America · 2010Article
- Nonaminoglycoside compounds induce readthrough of nonsense mutations.The Journal of experimental medicine · 2009Article
- Clinical radiation sensitivity with DNA repair disorders: an overview.International journal of radiation oncology, biology, physics · 2009Review
- A proposed bailout for A-T patients?European journal of neurology · 2009Article
- Hypersensitivity to chemoradiation in FANCA carrier with cervical carcinoma-A case report and review of the literature.Reports of practical oncology and radiotherapy : journal of Greatpoland Cancer Center in Poznan and Polish Society of Radiation OncologyArticle
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4 authors at 1 institution in 1 country.
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Abstract
backgroundNo rapid reliable method exists for identifying ataxia-telangiectasia (A-T) homozygotes or heterozygotes. Heterozygotes are at an increased risk of cancer and are more sensitive to the effects of ionizing radiation (IR) than the general population. We report a rapid flow cytometry (FC)-based ataxia-telangiectasia mutated (ATM) kinase assay that measures ATM- dependent phosphorylation of structural maintenance of chromosomes 1 (SMC1) following DNA damage (FC-pSMC1 assay).
methodsAfter optimizing conditions with lymphoblastoid cell lines (LCLs), we studied peripheral blood mononuclear cells (PBMCs) isolated from 16 healthy donors (unknowns), 10 obligate A-T heterozygotes, and 6 unrelated A-T patients. One hour after DNA damage (by either IR or bleomycin), the cells were fixed and incubated with a primary antibody to SMC1pSer966. We analyzed the stained cells by FC to determine the difference in geometric mean fluorescence intensity (DeltaGMFI) of untreated and treated cells; this difference was expressed as a percentage of daily experimental controls.
resultsThe FC-pSMC1 assay reliably distinguished ATM heterozygotes and homozygotes from controls. Average DeltaGMFI percentages (SD) of daily controls were, for unknowns, 106.1 (37.6); for A-T heterozygotes, 37.0 (18.7); and for A-T homozygotes; -8.73 (16.2). Values for heterozygotes and homozygotes were significantly different from those of controls (P < 0.0001).
conclusionsThe FC-pSMC1 assay shortens the turnaround time for diagnosing A-T homozygotes from approximately 3 months to approximately 3 h. It also identifies A-T heterozygotes and can be used for prenatal counseling or for screening individuals in large study cohorts for potential ATM heterozygosity, which can then be confirmed by sequencing.
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