The complex structure and dynamic evolution of human subtelomeres.

Heather C Mefford; Barbara J Trask

doi:10.1038/nrg727

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The complex structure and dynamic evolution of human subtelomeres.

Heather C Mefford·Barbara J Trask

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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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Animals Biological Evolution Ethnicity Gene Rearrangement Genetic Diseases, Inborn Genetic Variation Humans In Situ Hybridization, Fluorescence Models, Genetic Multigene Family Polymerase Chain Reaction Primates Recombination, Genetic Telomere Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.Review

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Heather C Mefford, Barbara J Trask. 2002. The complex structure and dynamic evolution of human subtelomeres.. https://doi.org/10.1038/nrg727

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