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Human telomere length is chromosome end-specific and conserved across individuals.

Kayarash KarimianAljona GrootVienna HusoRamin KahidiKar-Tong TanSamantha L SholesRebecca KeenerJohn F McDyerJonathan K AlderHeng LiAndreas RechtsteinerCarol W Greider
Published in: Science (New York, N.Y.) (2024)
Short telomeres cause age-related disease, and long telomeres contribute to cancer; however, the mechanisms regulating telomere length are unclear. We developed a nanopore-based method, which we call Telomere Profiling, to determine telomere length at nearly single-nucleotide resolution. Mapping telomere reads to chromosome ends showed chromosome end-specific length distributions that could differ by more than six kilobases. Examination of telomere lengths in 147 individuals revealed that certain chromosome ends were consistently longer or shorter. The same rank order was found in newborn cord blood, suggesting that telomere length is determined at birth and that chromosome end-specific telomere length differences are maintained as telomeres shorten with age. Telomere Profiling makes precision investigation of telomere length widely accessible for laboratory, clinical, and drug discovery efforts and will allow deeper insights into telomere biology.
Keyphrases
  • copy number
  • cord blood
  • drug discovery
  • single cell
  • single molecule
  • squamous cell carcinoma
  • high resolution
  • transcription factor
  • mass spectrometry
  • genome wide
  • gestational age