The complex structure and dynamic evolution of human subtelomeres

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-indi...

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Bibliographic Details
Published inNature reviews. Genetics Vol. 3; no. 2; pp. 91 - 102
Main Authors Trask, Barbara J, Mefford, Heather C
Format Journal Article
LanguageEnglish
Published England Nature Publishing Group 01.02.2002
Subjects
Animals
Artificial chromosomes
Biological Evolution
Cloning
Enzymes
Ethnic Groups - genetics
Evolution
Gene Rearrangement
Genes
Genetic Diseases, Inborn - genetics
Genetic Variation
Genomes
Humans
In Situ Hybridization, Fluorescence
Insects
Models, Genetic
Multigene Family
Polymerase Chain Reaction
Primates - genetics
Recombination, Genetic
Telomerase
Telomere - genetics
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Summary: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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ISSN:1471-0056
1471-0064
DOI:10.1038/nrg727