Repair of DNA double-strand breaks by templated nucleotide sequence insertions derived from distant regions of the genome

DOI Web Site 被引用文献8件
  • Masahiro Onozawa
    Genetics Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892; and
  • Zhenhua Zhang
    Genetics Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892; and
  • Yoo Jung Kim
    Genetics Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892; and
  • Liat Goldberg
    Genetics Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892; and
  • Tamas Varga
    Genetics Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892; and
  • P. Leif Bergsagel
    Comprehensive Cancer Center, Mayo Clinic, Scottsdale, AZ 85259
  • W. Michael Kuehl
    Genetics Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892; and
  • Peter D. Aplan
    Genetics Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892; and

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<jats:title>Significance</jats:title> <jats:p>We show that DNA double-strand breaks (DSBs) can be repaired by insertion of 50- to 1,000-bp sequences termed “templated-sequence insertions” (TSIs) derived from distant regions of the genome. Additional experiments indicate that the source of template for repair was primarily nuclear RNA. This mode of DNA-DSB repair by insertion is not restricted to experimentally produced breaks but also occurs at the site of spontaneous DNA DSBs in human cells. These TSIs are polymorphic in the human genome, suggesting that some TSIs occur in germ cells or embryos. Recognition of these TSIs is important in interpreting structural variations in short-read sequencing studies and provides additional polymorphic markers for population and evolution studies. This error-prone form of DNA repair may play a role in genetic diseases.</jats:p>

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