The complex structure and dynamic evolution of human subtelomeres

Nat Rev Genet. 2002 Feb;3(2):91-102. doi: 10.1038/nrg727.


Subtelomeres are extraordinarily dynamic and variable regions near the ends of chromosomes. They are defined by their unusual structure: patchworks of blocks that are duplicated near the ends of multiple chromosomes. Duplications among subtelomeres have spawned small gene families, making inter-individual variation in subtelomeres a potential source of phenotypic diversity. The ectopic recombination that occurs between subtelomeres might also have a role in reconstituting telomeres in the absence of telomerase. However, the propensity for subtelomeres to interchange is a double-edged sword, as extensive subtelomeric homology can mediate deleterious rearrangements of the ends of chromosomes to cause human disease.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Animals
  • Biological Evolution*
  • Ethnicity / genetics
  • Gene Rearrangement
  • Genetic Diseases, Inborn / genetics
  • Genetic Variation
  • Humans
  • In Situ Hybridization, Fluorescence
  • Models, Genetic
  • Multigene Family
  • Polymerase Chain Reaction
  • Primates / genetics
  • Recombination, Genetic
  • Telomere / genetics*