PMID- 23076733
OWN - NLM
STAT- MEDLINE
DCOM- 20130520
LR  - 20220331
IS  - 1573-6849 (Electronic)
IS  - 0967-3849 (Linking)
VI  - 20
IP  - 7
DP  - 2012 Oct
TI  - Human ring chromosomes and small supernumerary marker chromosomes-do they have 
      telomeres?
PG  - 825-35
LID - 10.1007/s10577-012-9316-x [doi]
AB  - Ring chromosomes and small supernumerary marker chromosomes (sSMC) are enigmatic 
      types of derivative chromosomes, in which the telomeres are thought to play a 
      crucial role in their formation and stabilization. Considering that there are 
      only a few studies that evaluate the presence of telomeric sequences in ring 
      chromosomes and on sSMC, here, we analyzed 14 ring chromosomes and 29 sSMC for 
      the presence of telomeric sequences through fluorescence in situ hybridization 
      (FISH). The results showed that ring chromosomes can actually fall into two 
      groups: the ones with or without telomeres. Additionally, telomeric signals were 
      detectable at both ends of centric and neocentric sSMC with inverted duplication 
      shape, as well as in complex sSMC. Apart from that, generally both ring- and 
      centric minute-shaped sSMC did not present telomeric sequences neither detectable 
      by FISH nor by a second protein-directed immunohistochemical approach. However, 
      the fact that telomeres are absent does not automatically mean that the sSMC has 
      a ring shape, as often deduced in the previous literature. Overall, the results 
      obtained by FISH studies directed against telomeres need to be checked carefully 
      by other approaches.
FAU - Guilherme, Roberta Santos
AU  - Guilherme RS
AD  - Institute of Human Genetics, Jena University Hospital, Friedrich Schiller 
      University, Kollegiengasse 10, 07743, Jena, Germany.
FAU - Klein, Elisabeth
AU  - Klein E
FAU - Venner, Claudia
AU  - Venner C
FAU - Hamid, Ahmed B
AU  - Hamid AB
FAU - Bhatt, Samarth
AU  - Bhatt S
FAU - Melaragno, Maria Isabel
AU  - Melaragno MI
FAU - Volleth, Marianne
AU  - Volleth M
FAU - Polityko, Anna
AU  - Polityko A
FAU - Kulpanovich, Anna
AU  - Kulpanovich A
FAU - Kosyakova, Nadezda
AU  - Kosyakova N
FAU - Liehr, Thomas
AU  - Liehr T
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20121018
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 (Genetic Markers)
SB  - IM
MH  - *Chromosome Aberrations
MH  - *Genetic Markers
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - *Ring Chromosomes
MH  - Sequence Analysis, DNA
MH  - Telomere/*genetics
EDAT- 2012/10/19 06:00
MHDA- 2013/05/22 06:00
CRDT- 2012/10/19 06:00
PHST- 2012/06/21 00:00 [received]
PHST- 2012/10/02 00:00 [accepted]
PHST- 2012/10/01 00:00 [revised]
PHST- 2012/10/19 06:00 [entrez]
PHST- 2012/10/19 06:00 [pubmed]
PHST- 2013/05/22 06:00 [medline]
AID - 10.1007/s10577-012-9316-x [doi]
PST - ppublish
SO  - Chromosome Res. 2012 Oct;20(7):825-35. doi: 10.1007/s10577-012-9316-x. Epub 2012 
      Oct 18.