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Duplicate, decouple, disperse: The evolutionary transience of human centromeric regions

Lookup NU author(s): Dr Michael Jackson

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Abstract

Human centromeric regions are enriched for segmental duplications, which elsewhere in the genome precipitate both genetic disease and gene formation. Molecular cytogenetic analyses of primate chromosomes have established that centromeres frequently move without altering the surrounding gene order. Recently, the positions of two ancestral centromeres have been mapped to regions of the human genome that are both rich in segmental duplications and are associated with duplication-based clinical phenotypes. This suggests a model for the evolution of euchromatic segmental duplication families involving the localised elevation of recombination rates within the duplication-rich heterochromatin of recently inactivated centromeres, and raises the possibility that the distribution of duplication/deletion syndromes within our genome has been heavily influenced by such events. The relaxation of the heterochromatin environment that must accompany centromere inactivation would also increase the transcriptional activity within previously pericentromeric DNA, increasing the likelihood of chimaeric gene creation through pericentromeric-directed duplication events.


Publication metadata

Author(s): Jackson M

Publication type: Review

Publication status: Published

Journal: Current Opinion in Genetics and Development

Year: 2003

Volume: 13

Issue: 6

Pages: 629-635

ISSN (print): 0959-437X

ISSN (electronic): 1879-0380

URL: http://dx.doi.org/10.1016/j.gde.2003.10.011

DOI: 10.1016/j.gde.2003.10.011

PubMed id: 14638326


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