Human subtelomere structure and variation

H. Riethman, A. Ambrosini, S. Paul

Research output: Contribution to journalReview articlepeer-review

94 Scopus citations


Work towards completion of the human reference genome sequence has revealed a great deal of complexity and plasticity in human subtelomeric regions. The highly variable subtelomeric repeat regions are filled with recently shuffled genomic segments, many of which contain sequences matching transcripts and transcript fragments; the rapid duplication and combinatorial evolution of these regions has generated an extremely diverse set of subtelomeric alleles in the human species, the complexity and potential significance of which is only beginning to be understood. This review summarizes recent progress in analyzing human subtelomeric sequence assemblies and large-scale variation in human subtelomere regions.

Original languageEnglish (US)
Pages (from-to)505-515
Number of pages11
JournalChromosome Research
Issue number5
StatePublished - Jul 2005
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Genetics


  • Human
  • Segmental duplication
  • Subtelomeric repeat
  • Telomere
  • Telomereic alleles


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