ArticlePloS one2013
Direct visualization of the highly polymorphic RNU2 locus in proximity to the BRCA1 gene.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 19 citations in OpenAlex.
- Guidance for clinical variant classification in genes for spliceosomal small nuclear RNAs.medRxiv : the preprint server for health sciences · 2026Article
- Article
- Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.Nature genetics · 2026Article
- The human branchpoint-interacting stem loop sequence and structure regulates U2 snRNA expression, branchpoint recognition, and transcriptome.bioRxiv : the preprint server for biology · 2025Article
- Systematic analysis of snRNA genes reveals frequentmedRxiv : the preprint server for health sciences · 2025Article
- 5'‑isomiR is the most abundant sequence of miR‑1246, a candidate biomarker of lung cancer, in serum.Molecular medicine reports · 2023Article
- Molecular combing and its application in clinical settings.Molecular cytogenetics · 2022Review
- PanCancer analysis of somatic mutations in repetitive regions reveals recurrent mutations in snRNA U2.NPJ genomic medicine · 2022Article
- The origin of exosomal miR-1246 in human cancer cells.RNA biology · 2019Article
- Emerging roles of macrosatellite repeats in genome organization and disease development.Epigenetics · 2017Review
- Polymorphic tandem repeats within gene promoters act as modifiers of gene expression and DNA methylation in humans.Nucleic acids research · 2016Article
- Cajal bodies are linked to genome conformation.Nature communications · 2016Article
- Estimation of the RNU2 macrosatellite mutation rate by BRCA1 mutation tracing.Nucleic acids research · 2014Article
- Digital genotyping of macrosatellites and multicopy genes reveals novel biological functions associated with copy number variation of large tandem repeats.PLoS genetics · 2014Article
Corrections and comments
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Authors and funding
11 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Although the breast cancer susceptibility gene BRCA1 is one of the most extensively characterized genetic loci, much less is known about its upstream variable number tandem repeat element, the RNU2 locus. RNU2 encodes the U2 small nuclear RNA, an essential splicing element, but this locus is missing from the human genome assembly due to the inherent difficulty in the assembly of repetitive sequences. To fill the gap between RNU2 and BRCA1, we have reconstructed the physical map of this region by re-examining genomic clone sequences of public databases, which allowed us to precisely localize the RNU2 array 124 kb telomeric to BRCA1. We measured by performing FISH analyses on combed DNA for the first time the exact number of repeats carried by each of the two alleles in 41 individuals and found a range of 6-82 copies and a level of heterozygosity of 98%. The precise localisation of the RNU2 locus in the genome reference assembly and the implementation of a new technical tool to study it will make the detailed exploration of this locus possible. This recently neglected macrosatellite could be valuable for evaluating the potential role of structural variations in disease due to its location next to a major cancer susceptibility gene.
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