ArticleProceedings of the National Academy of Sciences of the United States of America2014
TALEN-mediated single-base-pair editing identification of an intergenic mutation upstream of BUB1B as causative of PCS (MVA) syndrome.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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33 citing papers in PubMed, 62 citations in OpenAlex.
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- Mosaic variegated aneuploidy in development, ageing and cancer.Nature reviews. Genetics · 2024Review
- BUB1B monoallelic germline variants contribute to prostate cancer predisposition by triggering chromosomal instability.Journal of biomedical science · 2024Article
- RNA sequencing and target long-read sequencing reveal an intronic transposon insertion causing aberrant splicing.Journal of human genetics · 2024Article
- Does selection occur at the intermediate zone of two insufficiently isolated populations? A whole-genome analysis along an altitudinal gradient.Journal of plant research · 2023Article
- Bioinformatic identification of differentially expressed genes associated with hepatocellular carcinoma prognosis.Medicine · 2022Article
- BiallelicScience advances · 2022Article
- Base Editing in Human Cells to Produce Single-Nucleotide-Variant Clonal Cell Lines.Current protocols in molecular biology · 2020Article
- Applications of Genome Editing Technology in Research on Chromosome Aneuploidy Disorders.Cells · 2020Review
- BubR1 allelic effects drive phenotypic heterogeneity in mosaic-variegated aneuploidy progeria syndrome.The Journal of clinical investigation · 2020Article
- Role of dynamic nuclear deformation on genomic architecture reorganization.PLoS computational biology · 2019Article
- Combined Genetic and Chromosomal Characterization of Wilms Tumors Identifies Chromosome 12 Gain as a Potential New Marker Predicting a Favorable Outcome.Neoplasia (New York, N.Y.) · 2019Article
- Exploration of genetic basis underlying individual differences in radiosensitivity within human populations using genome editing technology.Journal of radiation research · 2018Review
- Updated summary of genome editing technology in human cultured cells linked to human genetics studies.Journal of human genetics · 2018Review
- Site-specific randomization of the endogenous genome by a regulatable CRISPR-Cas9 piggyBac system in human cells.Scientific reports · 2018Article
- Methods for Scarless, Selection-Free Generation of Human Cells and Allele-Specific Functional Analysis of Disease-Associated SNPs and Variants of Uncertain Significance.Scientific reports · 2017Article
- Evaluation of ATM heterozygous mutations underlying individual differences in radiosensitivity using genome editing in human cultured cells.Scientific reports · 2017Article
- Mechanisms for nonmitotic activation of Aurora-A at cilia.Biochemical Society transactions · 2017Review
- PCS/MVA syndrome caused by anHuman genome variation · 2017Article
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12 authors at 3 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
Cancer-prone syndrome of premature chromatid separation with mosaic variegated aneuploidy [PCS (MVA) syndrome] is a rare autosomal recessive disorder characterized by constitutional aneuploidy and a high risk of childhood cancer. We previously reported monoallelic mutations in the BUB1B gene (encoding BUBR1) in seven Japanese families with the syndrome. No second mutation was found in the opposite allele of any of the families studied, although a conserved BUB1B haplotype and a decreased transcript were identified. To clarify the molecular pathology of the second allele, we extended our mutational search to a candidate region surrounding BUB1B. A unique single nucleotide substitution, G > A at ss802470619, was identified in an intergenic region 44 kb upstream of a BUB1B transcription start site, which cosegregated with the disorder. To examine whether this is the causal mutation, we designed a transcription activator-like effector nuclease-mediated two-step single-base pair editing strategy and biallelically introduced this substitution into cultured human cells. The cell clones showed reduced BUB1B transcripts, increased PCS frequency, and MVA, which are the hallmarks of the syndrome. We also encountered a case of a Japanese infant with PCS (MVA) syndrome carrying a homozygous single nucleotide substitution at ss802470619. These results suggested that the nucleotide substitution identified was the causal mutation of PCS (MVA) syndrome.
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