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

The complex structure and dynamic evolution of human subtelomeres

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Review

The complex structure and dynamic evolution of human subtelomeres

Heather C Mefford et al. Nat Rev Genet. 2002 Feb.

Erratum in

  • Nat Rev Genet 2002 Mar;3(3):229

Abstract

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.

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