{
  "abstract": "Spliceosomal small nuclear RNA (snRNA) genes show unusually high germline mutation rates, with R-loop formation previously implicated in this mutability. Our cross-species rare-variant and de novo mutation analyses show that hypermutability is concentrated in RNA polymerase II-transcribed spliceosomal snRNA genes, with strong enrichment in primates but a much weaker excess in rodents and chicken, consistent with lineage differences in APOBEC3 repertoires. Human Pol II-transcribed spliceosomal snRNA genes show mutational strand asymmetry, APOBEC3-associated mutational signatures and strong APOBEC3B binding signals. R-loops are also frequent at these loci, including in mouse genes with much weaker hypermutability, indicating that R-loop formation alone is insufficient to explain the phenotype. Together, cross-species comparisons support lineage-specific APOBEC3 activity, rather than R-loop formation alone, as a major contributor to spliceosomal snRNA gene hypermutability.",
  "abstract_shown": true,
  "affiliations": [
    "Sun Yat-sen University"
  ],
  "article_type": "New results",
  "arxiv": null,
  "author_total": 4,
  "authors": [
    {
      "name": "J. Xue"
    },
    {
      "name": "Z. Jiang"
    },
    {
      "name": "J. Zhang"
    },
    {
      "affs": [
        0
      ],
      "name": "C. Li"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/4f8ydyph5kpsa.bib",
  "cited_by": 0,
  "doi": "10.64898/2026.10.12.758683",
  "fulltext_url": "https://www.biorxiv.org/content/10.64898/2026.10.12.758683v1.full",
  "id": "4f8ydyph5kpsa",
  "issns": [],
  "landing_url": "https://www.biorxiv.org/content/10.64898/2026.10.12.758683v1",
  "language": null,
  "licence": "CC-BY",
  "licence_label": "CC BY",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "biorxiv",
      "genomics"
    ],
    [
      "openalex",
      "1312|RNA Research and Splicing"
    ]
  ],
  "openalex": "W7221705157",
  "pdf_url": "https://www.biorxiv.org/content/10.64898/2026.10.12.758683v1.full.pdf",
  "pmcid": null,
  "pmid": null,
  "published": "2026-10-12",
  "publisher": null,
  "ris": "https://research.draconitic.com/paper/4f8ydyph5kpsa.ris",
  "sources": [
    {
      "first_seen": "2026-10-30T12:27:34Z",
      "native_id": "10.64898/2026.10.12.758683",
      "source": "biorxiv",
      "url": "https://www.biorxiv.org/content/10.64898/2026.10.12.758683v1"
    }
  ],
  "subjects": [
    {
      "field": "biology",
      "origin": "biorxiv:genomics",
      "subfield": "genetics-genomics"
    }
  ],
  "title": "Cross-species analysis identifies APOBEC3-associated spliceosomal snRNA hypermutability",
  "title_text": "Cross-species analysis identifies APOBEC3-associated spliceosomal snRNA hypermutability",
  "type": "preprint",
  "updated_at": "2026-10-30T12:27:34Z",
  "url": "https://research.draconitic.com/paper/4f8ydyph5kpsa",
  "venue": "bioRxiv",
  "versions": []
}