PMID- 9543014
OWN - NLM
STAT- MEDLINE
DCOM- 19980514
LR  - 20191102
IS  - 0967-3849 (Print)
IS  - 0967-3849 (Linking)
VI  - 6
IP  - 2
DP  - 1998 Feb
TI  - Chromosome stability is maintained by short intercentromeric distance in 
      functionally dicentric human Robertsonian translocations.
PG  - 115-22
AB  - 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 centromeres ranged from 2% to 82%. These results support the hypothesis that 
      the close proximity of two functional centromeres on Robertsonian translocations 
      allows them to remain stable.
FAU - Page, S L
AU  - Page SL
AD  - Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, 
      TX, USA.
FAU - Shaffer, L G
AU  - Shaffer LG
LA  - eng
PT  - Journal Article
PT  - Research Support, U.S. Gov't, Non-P.H.S.
PL  - Netherlands
TA  - Chromosome Res
JT  - Chromosome research : an international journal on the molecular, supramolecular 
      and evolutionary aspects of chromosome biology
JID - 9313452
RN  - 0 (Chromosomal Proteins, Non-Histone)
RN  - 0 (centromere protein C)
SB  - IM
MH  - Cell Line
MH  - Centromere/chemistry/*genetics
MH  - Child
MH  - Chromosomal Proteins, Non-Histone/analysis
MH  - Chromosomes, Human, Pair 13/*genetics
MH  - Chromosomes, Human, Pair 14/*genetics
MH  - Female
MH  - Fluorescent Antibody Technique
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/methods
MH  - Male
MH  - Translocation, Genetic/*genetics
EDAT- 1998/05/16 00:00
MHDA- 1998/05/16 00:01
CRDT- 1998/05/16 00:00
PHST- 1998/05/16 00:00 [pubmed]
PHST- 1998/05/16 00:01 [medline]
PHST- 1998/05/16 00:00 [entrez]
AID - 10.1023/a:1009286929145 [doi]
PST - ppublish
SO  - Chromosome Res. 1998 Feb;6(2):115-22. doi: 10.1023/a:1009286929145.