PMID: 9543014May 16, 1998Paper

Chromosome stability is maintained by short intercentromeric distance in functionally dicentric human Robertsonian translocations

Chromosome Research : an International Journal on the Molecular, Supramolecular and Evolutionary Aspects of Chromosome Biology
S L Page, L G Shaffer

Abstract

While the formation of a dicentric chromosome often leads to chromosome instability, human dicentric Robertsonian translocations usually remain stable. To investigate the basis for this stability, we have examined the centromeres of 15 structurally dicentric rob(13q14q) Robertsonian translocations using immunofluorescence and fluorescence in situ hybridization (FISH). The immunofluorescence detection of centromere protein C (CENP-C) was used as a marker for centromere function as CENP-C seems to play an essential role in kinetochore structure and stability and was previously shown to be absent from inactive centromeres. In all 15 translocation-containing cell lines, CENP-C was confined to only one of the centromeres of the translocation in a fraction of the cells analyzed. This suggests that centromere inactivation commonly occurs on dicentric Robertsonian translocations and may serve as one mechanism allowing for their stability. However, in the majority of the translocations (12 out of 15), a portion of the cells analyzed displayed CENP-C immunofluorescence at both centromeres, suggesting that both centromeres were active and that the translocation was functionally dicentric. The percentage of cells with CENP-C at both centro...Continue Reading

Citations

Nov 15, 2002·Clinical Genetics·R V LeboJ M Milunsky
Feb 7, 2008·Cytogenetic and Genome Research·R N Mackinnon, L J Campbell
Jun 23, 2010·Chromosome Research : an International Journal on the Molecular, Supramolecular and Evolutionary Aspects of Chromosome Biology·Elisabeth EwersThomas Liehr
Nov 7, 1998·Nature Genetics·B A Sullivan, H F Willard
Aug 6, 2005·American Journal of Medical Genetics. Part a·Jennifer J D MorrissetteNancy B Spinner
Jul 18, 2012·Chromosome Research : an International Journal on the Molecular, Supramolecular and Evolutionary Aspects of Chromosome Biology·Kaitlin M StimpsonBeth A Sullivan
Dec 7, 2005·Chromosome Research : an International Journal on the Molecular, Supramolecular and Evolutionary Aspects of Chromosome Biology·Anne W HigginsHuntington F Willard
Aug 25, 2016·Chromosome Research : an International Journal on the Molecular, Supramolecular and Evolutionary Aspects of Chromosome Biology·Jennifer N Cech, Catherine L Peichel
Jan 1, 2011·Genetics Research International·Ruth N Mackinnon, Lynda J Campbell
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Feb 11, 2021·Genome Biology and Evolution·Itay Mayrose, Martin A Lysak
Sep 10, 2009·Cell·Heather E Hall, R Scott Hawley
Aug 3, 2010·Current Opinion in Cell Biology·Kaitlin M Stimpson, Beth A Sullivan
Nov 21, 2007·Genome Research·Dawn M StultsAndrew J Pierce

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