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Nat Rev Genet. 2002 Feb;3(2):91-102.

The complex structure and dynamic evolution of human subtelomeres.

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Division of Human Biology, Fred Hutchinson Cancer Research Center, Seattle, Washington 98109, USA.

Erratum in

  • Nat Rev Genet 2002 Mar;3(3):229.


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.

[Indexed for MEDLINE]

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