title: The complex structure and dynamic evolution of human subtelomeres.
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.
authors.affiliation: Division of Human Biology, Fred Hutchinson Cancer Research Center, Seattle, Washington 98109, USA.
authors.forename: Heather C
authors.initials: HC
authors.lastname: Mefford
authors.forename: Barbara J
authors.initials: BJ
authors.lastname: Trask
mesh_terms: D000818:Animals; D005075:Biological Evolution; D005006:Ethnicity / Q000235:genetics; D015321:Gene Rearrangement; D030342:Genetic Diseases, Inborn / Q000235:genetics; D014644:Genetic Variation; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008957:Models, Genetic; D005810:Multigene Family; D016133:Polymerase Chain Reaction; D011323:Primates / Q000235:genetics; D011995:Recombination, Genetic; D016615:Telomere / Q000235:genetics*