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