The complex structure and dynamic evolution of human subtelomeres.

Bibliographic Collection: 
MOCA Reference, APE
Publication Type: Journal Article
Authors: Mefford, Heather C; Trask, Barbara J
Year of Publication: 2002
Journal: Nat Rev Genet
Volume: 3
Issue: 2
Pagination: 91-102
Date Published: 2002 Feb
Publication Language: eng
ISSN: 1471-0056
Keywords: Animals, Biological Evolution, Ethnic groups, Gene Rearrangement, Genetic Diseases, Inborn, Genetic Variation, Humans, In Situ Hybridization, Fluorescence, Models, Genetic, Multigene Family, Polymerase Chain Reaction, Primates, Recombination, Genetic, Telomere

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.

DOI: 10.1038/nrg727
Alternate Journal: Nat. Rev. Genet.