Spontaneous occurrence of telomeric DNA damage response in the absence of chromosome fusions

Nat Struct Mol Biol. 2009 Dec;16(12):1244-51. doi: 10.1038/nsmb.1725. Epub 2009 Nov 22.

Abstract

Telomere dysfunction is typically studied under conditions in which a component of the six-subunit shelterin complex that protects chromosome ends is disrupted. The nature of spontaneous telomere dysfunction is less well understood. Here we report that immortalized human cell lines lacking wild-type p53 function spontaneously show many telomeres with a DNA damage response (DDR), commonly affecting only one sister chromatid and not associated with increased chromosome end-joining. DDR(+) telomeres represent an intermediate configuration between the fully capped and uncapped (fusogenic) states. In telomerase activity-positive (TA(+)) cells, DDR is associated with low TA and short telomeres. In cells using the alternative lengthening of telomeres mechanism (ALT(+)), DDR is partly independent of telomere length, mostly affects leading strand-replicated telomeres, and can be partly suppressed by TRF2 overexpression. In ALT(+) (but not TA(+)) cells, DDR(+) telomeres preferentially associate with large foci of extrachromosomal telomeric DNA and recombination proteins. DDR(+) telomeres therefore arise through different mechanisms in TA(+) and ALT(+) cells and have different consequences.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cell Line
  • Chromosomes, Human / metabolism*
  • DNA Damage*
  • Humans
  • Models, Biological
  • Recombinases / metabolism
  • Telomerase / metabolism
  • Telomere / metabolism*
  • Telomeric Repeat Binding Protein 2 / metabolism

Substances

  • Recombinases
  • TERF2 protein, human
  • Telomeric Repeat Binding Protein 2
  • Telomerase