{
  "abstract": "An inserted SINE-VNTR-Alu(AGAGGG)n repeat into the TAF1 gene is the cause of X-linked dystonia-parkinsonism. Mosaic divergent repeat interruptions affecting both motif length and sequence (mDRILS) of the canonical repeat (AGAGGG)n arise and can diminish repeat instability and delay disease age of onset. The repeat itself may affect gain-of-function disease pathways. Consequently, XDP etiology may involve unusual structures formed by the repeats. To study the effects of mDRILS on the formation of unusual structures of the XDP TAF1-SVA repeat, we designed a series of G-rich DNA and RNA oligonucleotides having the pure canonical repeat 5’-(AGAGGG)4−3’, or either of the most common mDRILS 5’-(AGAGGG)2AGGG(AGAGGG)-3’; and 5’-(AGAGGG)2AGG(AGAGGG)-3’. Circular dichroism, thermal melting, binding of the G-quadruplex ligand TMPyP4, shows the first canonical and AGGG-interrupted sequence assume K+-sensitive stable G-quadruplexes, whereas GA duplexes are the prominent structure in the AGG-interrupted form. The complementary C-rich strands, 5’-(CCCTCT)4−3’, and 5’-(CCCTCT)2CCCT(CCCTCT)-3’, and 5’-(CCCTCT)2CCT(CCCTCT)-3’, assumed i-motif-compatible structure. Mixtures of the G- and C-rich complementary sequences, at 1:2 ratios, showed triplex-forming propensity for the canonical and AGGG-interrupted, but not the AGG-interrupted forms. The ability of mDRILS to elicit modifications of the disease-causing XDP TAF1-SVA repeat to enable or disable the formation of specific structures, such as quadruplex and triplex structures, may explain in part how mDRILS mediate their disease-modifying effects.",
  "abstract_shown": true,
  "affiliations": [
    "Department of Chemical Engineering, Amirkabir University of Technology (Tehran Polytechnic), Iran",
    "Institute of Biochemistry and Biophysics (IBB), University of Tehran, Tehran, Iran",
    "Institute of Neurogenetics, University of Lübeck, Lübeck, Germany",
    "Department of Endocrinology, Diabetes and Metabolism, University Hospital Essen, University of Duisburg-Essen, Essen, Germany",
    "Department of Molecular and Medical Genetics, University of Toronto, Canada",
    "The Hospital for Sick Children, Toronto, Canada"
  ],
  "article_type": "Research Article",
  "arxiv": null,
  "author_total": 10,
  "authors": [
    {
      "affs": [
        0
      ],
      "name": "Niousha Sharifi Soltani"
    },
    {
      "affs": [
        0
      ],
      "name": "Bita Zamiri",
      "orcid": "0009-0002-2138-7665"
    },
    {
      "affs": [
        0
      ],
      "name": "Amirreza Shafieeha"
    },
    {
      "affs": [
        1
      ],
      "name": "Ali Akbar Moosavi-Movahedi"
    },
    {
      "affs": [
        2
      ],
      "name": "Joshua Laß"
    },
    {
      "affs": [
        2
      ],
      "name": "Christine Klein"
    },
    {
      "affs": [
        2
      ],
      "name": "Ana Westenberger"
    },
    {
      "affs": [
        2
      ],
      "name": "Joanne Trinh"
    },
    {
      "affs": [
        3
      ],
      "name": "Sebastian Hönes",
      "orcid": "0000-0002-5080-7166"
    },
    {
      "affs": [
        4,
        5
      ],
      "name": "Christopher E. Pearson"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/9v89xd88g2zb1.bib",
  "cited_by": 0,
  "doi": "10.1371/journal.pone.0360550",
  "fulltext_url": "https://pmc.ncbi.nlm.nih.gov/articles/PMC13712557/",
  "id": "9v89xd88g2zb1",
  "issns": [
    "1932-6203"
  ],
  "landing_url": "https://doi.org/10.1371/journal.pone.0360550",
  "language": "en",
  "licence": "CC-BY-4.0",
  "licence_label": "CC BY 4.0",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "heading",
      "Biochemistry"
    ],
    [
      "heading",
      "Bioinformatics"
    ],
    [
      "heading",
      "Biology and Life Sciences"
    ],
    [
      "heading",
      "Biology and life sciences"
    ],
    [
      "heading",
      "Cations"
    ],
    [
      "heading",
      "Chemical Compounds"
    ],
    [
      "heading",
      "Chemistry"
    ],
    [
      "heading",
      "Circular Dichroism Spectroscopy"
    ],
    [
      "heading",
      "Condensed Matter Physics"
    ],
    [
      "heading",
      "DNA"
    ],
    [
      "heading",
      "DNA structure"
    ],
    [
      "heading",
      "Database and Informatics Methods"
    ],
    [
      "heading",
      "Genetics"
    ],
    [
      "heading",
      "Ions"
    ],
    [
      "heading",
      "Macromolecular structure analysis"
    ],
    [
      "heading",
      "Melting"
    ],
    [
      "heading",
      "Molecular biology"
    ],
    [
      "heading",
      "Nucleic acids"
    ],
    [
      "heading",
      "Nucleotides"
    ],
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      "heading",
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    ],
    [
      "heading",
      "Phase Transitions"
    ],
    [
      "heading",
      "Phosphates"
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    [
      "heading",
      "Physical Chemistry"
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    [
      "heading",
      "Physical Sciences"
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    [
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      "Physics"
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      "RNA"
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      "RNA structure"
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    [
      "heading",
      "Research and Analysis Methods"
    ],
    [
      "heading",
      "Sequence Analysis"
    ],
    [
      "heading",
      "Sequence Motif Analysis"
    ],
    [
      "heading",
      "Sodium Phosphate"
    ],
    [
      "heading",
      "Spectrum Analysis Techniques"
    ],
    [
      "openalex",
      "1312|DNA and Nucleic Acid Chemistry"
    ],
    [
      "plos",
      "/Biology and life sciences/Biochemistry/Nucleic acids/DNA/DNA structure"
    ],
    [
      "plos",
      "/Biology and life sciences/Biochemistry/Nucleic acids/RNA/RNA structure"
    ],
    [
      "plos",
      "/Biology and life sciences/Biochemistry/Nucleotides/Oligonucleotides"
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    [
      "plos",
      "/Biology and life sciences/Genetics/DNA/DNA structure"
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    [
      "plos",
      "/Biology and life sciences/Molecular biology/Macromolecular structure analysis/DNA structure"
    ],
    [
      "plos",
      "/Biology and life sciences/Molecular biology/Macromolecular structure analysis/RNA structure"
    ],
    [
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      "/Physical sciences/Chemistry/Chemical compounds/Phosphates/Sodium phosphate"
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    [
      "plos",
      "/Physical sciences/Chemistry/Physical chemistry/Ions/Cations"
    ],
    [
      "plos",
      "/Physical sciences/Physics/Condensed matter physics/Phase transitions/Melting"
    ],
    [
      "plos",
      "/Research and analysis methods/Database and informatics methods/Bioinformatics/Sequence analysis/Sequence motif analysis"
    ],
    [
      "plos",
      "/Research and analysis methods/Spectrum analysis techniques/Circular dichroism spectroscopy"
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  "pdf_url": "https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0360550&type=printable",
  "pmcid": "PMC13712557",
  "pmid": "42945166",
  "published": "2026-10-27",
  "publisher": "Public Library of Science",
  "ris": "https://research.draconitic.com/paper/9v89xd88g2zb1.ris",
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    {
      "first_seen": "2026-10-30T12:17:17Z",
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  "subjects": [
    {
      "field": "biochemistry",
      "origin": "plos:molecular biology",
      "subfield": "molecular-biology"
    },
    {
      "field": "biology",
      "origin": "heading:Bioinformatics",
      "subfield": "bioinformatics"
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    {
      "field": "biology",
      "origin": "plos:genetics",
      "subfield": "genetics-genomics"
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    {
      "field": "chemistry",
      "origin": "plos:physical chemistry",
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      "field": "physics",
      "origin": "heading:Condensed Matter Physics",
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  ],
  "title": "Mosaic divergent repeat interruptions of motif length and sequence, mDRILS, of XDP-linked repeats affect formation of DNA/RNA triplexes & quadruplexes",
  "title_text": "Mosaic divergent repeat interruptions of motif length and sequence, mDRILS, of XDP-linked repeats affect formation of DNA/RNA triplexes & quadruplexes",
  "type": "peer-reviewed",
  "updated_at": "2026-10-31T12:23:06Z",
  "url": "https://research.draconitic.com/paper/9v89xd88g2zb1",
  "venue": "PLOS One",
  "versions": []
}