Human Molecular Genetics, Vol 6, 1195-1204, Copyright © 1997 by Oxford University Press
TW Depinet, JL Zackowski, WC Earnshaw, S Kaffe, GS Sekhon, R Stallard, BA Sullivan, GH Vance, DL Van Dyke, HF Willard, AB Zinn and S Schwartz
Recent studies have implicated alpha-satellite DNA as an integral part of
the centromere, important for the normal segregation of human chromosomes.
To explore the relationship between the normal functioning centromere and
alpha-satellite DNA, we have studied eight accessory marker chromosomes in
which fluorescence in-situ hybridization could detect neither
pancentromeric nor chromosome-specific alpha-satellite DNA. These accessory
marker chromosomes were present in the majority of or all cells analyzed
and appeared mitotically stable, thereby indicating the presence of a
functional centromere. FISH analysis with both chromosome-specific
libraries and single-copy YACs, together with microsatellite DNA studies,
allowed unequivocal identification of both the origin and structure of
these chromosomes. All but one of the marker chromosomes were linear mirror
image duplications, and they were present along with either two additional
normal chromosomes or with one normal and one deleted chromosome. Indirect
immunofluorescence analysis revealed that the centromere protein CENP-B was
not present on these markers; however, both CENP-C and CENP-E were present
at a position defining a 'neo-centromere'. These studies provide insight
into a newly defined class of marker chromosomes that lack detectable
alpha- satellite DNA. At least for such marker chromosomes, alpha-satellite
DNA at levels detectable by FISH appears unnecessary for chromosome
segregation or for the association of CENP-C and CENP-E at a functional
centromere.
ARTICLES
Characterization of neo-centromeres in marker chromosomes lacking detectable alpha-satellite DNA
Department of Genetics and Center for Human Genetics, Case Western Reserve University School of Medicine and University Hospitals of Cleveland, OH 44106-9959, USA.
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