Chromosome‐specific Repeats (Low‐copy Repeats)


Low copy repeats or segmental duplications are duplicated blocks of genomic DNA ranging in size from 1 to 200 kb. They result from interchromosomal or intrachromosomal duplications.

Keywords: low‐copy repeats; duplicon; paralogy; evolution; diseases

Figure 1.

Possible genomic rearrangements mediated by chromosome‐specific repeats. (a, b) Interchromosomal (a) and intrachromatid (b) rearrangements of direct repeats, which result in the formation of microdeletions, microduplications and an episomal circle for genes. (c, d) Possible outcomes of interchromosomal (c) and intrachromatid (d) rearrangements between repeats in an inverted configuration, resulting in acentric, dicentric and an inverted orientation of genes.



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Further Reading

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Potier, M‐C, Golfier, G, and Eichler, EE(Dec 2007) Chromosome‐specific Repeats (Low‐copy Repeats). In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1002/9780470015902.a0005033.pub2]