Human Molecular Genetics, Vol 8, 151-155, Copyright © 1999 by Oxford University Press
EE Eichler
In the last few years, a paradox has emerged regarding the relationship of
centromere structure and its function. Most centromeric DNAs analyzed to
date are composed of a remarkably complex array of repeat structures. In
contrast, recent analyses of neocentromeric DNA reveal that repetitive DNA
is not a prerequisite for centromere activity. The ubiquity of repetitive
sequences among diverse species at sites of primary constriction argues
that there is a strong evolutionary link between centromere structure and
function. Dynamic mutational processes resulting in amplification, deletion
and transposition of repetitive sequences appear to occur frequently in
such regions, resulting in considerable interspecific diversity in
structure and sequence. One possible solution to this conundrum may be that
the rapid accumulation of repetitive sequences within centromeric and
pericentromeric DNA is a consequence of functionally active centromeres.
Emerging repetitive structures at centromeric sites may be an important
byproduct of a functional centromere which ensures that site as an
evolutionarily favored position in subsequent meiotic and mitotic lineages.
The recent identification of large gene duplications in the vicinity of
centromeres may be another example of the enhanced mutational lability of
such regions of the genome.
REVIEWS
Repetitive conundrums of centromere structure and function
Department of Genetics and Center for Human Genetics, Case Western Reserve School of Medicine, University Hospitals of Cleveland, Cleveland, OH 44106, USA. eee@po.cwru.edu
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