Short, local duplications lead to an increase in the local copy number of a 1-100 bp sequence motif. They are usually unstable and evolve rapidly. When they involve a functional sequence such as a transcription factor binding site or a protein-protein interaction domain, they can drive phenotypic diversity. Short, local duplications have been implicated in the dramatic morphological differences among different dog breeds, and in the differences in social structure between two sister species of voles. Several human diseases and disorders are also caused by this class of duplication, which encompasses microsatellites, minisatellites and doublets.
ASJC Scopus subject areas
- Developmental Biology