Subtelomeres: Evolution in the Human Genome


Subtelomeres are extremely dynamic regions near the ends of chromosomes, exhibiting increased recombination and variation. Polymorphic duplications within subtelomeres contain genes, making subtelomeres a source of phenotypic diversity and disease.

Keywords: subtelomere; evolution; duplication; variation

Figure 1.

Comparative subtelomere organization. Telomere and subtelomere domains are illustrated for eight species using one chromosome end as an example. There is gross structural variation among chromosome ends in most species. Telomere repeats are indicated by solid black arrowheads with telomere repeat consensus sequences later. Subtelomeric elements are labelled as described in the text. Rectangles without borders represent paralogous duplications present in a subset of chromosome ends.

Figure 2.

Human subtelomere paralogy map. Subtelomeric contigs present in the human genome assembly are aligned at telomeres. Copies of a given duplication block have the same colour, line width and number. A and B indicate allelic variants. Adapted by permission from Macmillan Publishers Ltd: Linardopoulou et al., copyright 2005.

Figure 3.

Location of duplication block 3 in primate genomes. A block 3 FISH probe hybridizes to subtelomeres (shown in red). Block 3 hybridizes to the 3q, 15q, and 19p subtelomeres in cells from this human individual (a). Block 3 hybridizes to the 4q subtelomeres in chimpanzee (b) and gorilla genomes (c). The ancestral site of block 3 is the 15q subtelomere, as shown in the orangutan genome (d). Figure provided by M.K. Rudd, supported by NIH grants T32 HG00035 and R01 GM57070.

Figure 4.

Subtelomeric translocation. (a) The distal 3 Mb of the short arm of chromosome 16 includes the duplicated subtelomeric region (terminal blocks) and chromosome specific DNA (line). Subtelomeric duplication blocks 1, 26 and 17 are as described in Figure . Subtelomeric probe, RPCI‐11 715J22, hybridizes approximately 2.5 Mb from the end of the chromosome. RefSeq genes in the distal 3 Mb were retrieved from the UCSC browser ( (b) Probe RPCI‐11 715J22 hybridizes to the short arm of chromosomes 16 (arrows) and the short arm of one X chromosome (arrowhead). (c) Subtelomeric probe, RPCI‐11 46C18, hybridizes to the short arm of one X chromosome (arrow), but is missing from the other X chromosome (arrowhead). This condition represents a trisomy for the 16p subtelomere and a monosomy for the Xp subtelomere. FISH images provided by Christa Lese Martin, Emory University.



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Further Reading

Bailey JA and Eichler EE (2006) Primate segmental duplications: crucibles of evolution, diversity and disease. Nature Reviews Genetics 7: 552–564.

Blasco MA (2005) Telomeres and human disease: ageing, cancer and beyond. Nature Reviews Genetics 6: 611–622.

de Lange T (2002) Protection of mammalian telomeres. Oncogene 21: 532–540.

Mefford HC and Trask BJ (2002) The complex structure and dynamic evolution of human subtelomeres. Nature Reviews Genetics 3: 91–102.

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Katharine Rudd, M(Dec 2007) Subtelomeres: Evolution in the Human Genome. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1002/9780470015902.a0020840]