Human subtelomere structure and variation.
Work towards completion of the human reference genome sequence has revealed a great deal of complexity and plasticity in human subtelomeric regions. The highly variable subtelomeric repeat regions are filled with recently shuffled genomic segments, many of which contain sequences matching transcripts and transcript fragments; the rapid duplication and combinatorial evolution of these regions has generated an extremely diverse set of subtelomeric alleles in the human species, the complexity and potential significance of which is only beginning to be understood. This review summarizes recent progress in analyzing human subtelomeric sequence assemblies and large-scale variation in human subtelomere regions.
Riethman
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Wistar Institute, 3601 Spruce St., Philadelphia, PA 19104, USA. Riethman@wistar.org
Ambrosini
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Paul
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D014644:Genetic Variation / Q000235:genetics*; D015894:Genome, Human; D006801:Humans; D020071:Interspersed Repetitive Sequences / Q000235:genetics; D020161:Physical Chromosome Mapping; D017422:Sequence Analysis, DNA; D016615:Telomere / Q000235:genetics*