Mitotic stability of small supernumerary marker chromosomes: a study based on 93 immortalized cell lines.
Small supernumerary marker chromosomes (sSMC) are known for being present in mosaic form as 47,+mar/46 in >50% of the cases with this kind of extra chromosomes. However, no detailed studies have been done for the mitotic stability of sSMC so far, mainly due to the lack of a corresponding in vitro model system. Recently, we established an sSMC-cell bank (Else Kröner-Fresenius-sSMC-cellbank) with >150 cell lines. Therefore, 93 selected sSMC cases were studied here for the presence of the corresponding marker chromosomes before and after Epstein-Barr virus-induced immortalization. The obtained results showed that dicentric inverted duplicated-shaped sSMC are by far more stable in vitro than monocentric centric minute- or ring-shaped sSMC. Simultaneously, a review of the literature revealed that a comparable shape-dependent mitotic stability can be found in vivo in sSMC carriers. Additionally, a possible impact of the age of the sSMC carrier on mitotic stability was found: sSMC cell lines established from patients between 10-20 years of age were predominantly mitotically unstable. The latter finding was independent of the sSMC shape. The present study shows that in vitro models can lead to new and exciting insights into the biology of this genetically and clinically heterogeneous patient group.
Institute of Human Genetics, Jena University Hospital, Friedrich Schiller University, Jena, Germany.
Hannes
H
Spittel
Florian
F
Kubek
Katharina
K
Kreskowski
Monika
M
Ziegler
Elisabeth
E
Klein
Ahmed B
AB
Hamid
Nadezda
N
Kosyakova
Gopakumar
G
Radhakrishnan
Annelore
A
Junge
Peter
P
Kozlowski
Berndt
B
Schulze
Thomas
T
Martin
Dagmar
D
Huhle
Karl
K
Mehnert
Laura
L
Rodríguez
Mehmet A
MA
Ergun
Catherine
C
Sarri
Mariela
M
Militaru
Fedora
F
Stipoljev
Hanne
H
Tittelbach
Faezeh
F
Vasheghani
Marcelo
M
de Bello Cioffi
Shaymaa S
SS
Hussein
Xiaobo
X
Fan
Marianne
M
Volleth
Thomas
T
Liehr
D000293:Adolescent; D000328:Adult; D002460:Cell Line; D002648:Child; D002675:Child, Preschool; D043171:Chromosomal Instability; D002871:Chromosome Banding; D025063:Chromosome Disorders / Q000235:genetics*; D005260:Female; D005819:Genetic Markers; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D008938:Mitosis / Q000235:genetics*; D009030:Mosaicism; D055815:Young Adult
D005819:Genetic Markers