First molecular-cytogenetic characterization of Fanconi anemia fragile sites in primary lymphocytes of FA-D2 patients in different stages of the disease
2016
Аутори
Filipović, Jelena G.Joksić, Gordana
Vujić, Dragana
Joksić, Ivana
Mrasek, Kristin
Weise, Anja
Liehr, Thomas
Чланак у часопису (Објављена верзија)
Метаподаци
Приказ свих података о документуАпстракт
Background: Fanconi anemia (FA) is a chromosomal instability syndrome characterized by increased frequency of chromosomal breakages, chromosomal radial figures and accelerated telomere shortening. In this work we performed detailed molecular-cytogenetic characterization of breakpoints in primary lymphocytes of FA-D2 patients in different stages of the disease using fluorescent in situ hybridization. Results: We found that chromosomal breakpoints co-localize on the molecular level with common fragile sites, whereas their distribution pattern depends on the severity of the disease. Telomere quantitative fluorescent in situ hybridization revealed that telomere fusions and radial figures, especially radials which involve telomere sequences are the consequence of critically shortened telomeres that increase with the disease progression and could be considered as a predictive parameter during the course of the disease. Sex chromosomes in FA cells are also involved in radial formation indicat...ing that specific X chromosome regions share homology with autosomes and also could serve as repair templates in resolving DNA damage. Conclusions: FA-D2 chromosomal breakpoints co-localize with common fragile sites, but their distribution pattern depends on the disease stage. Telomere fusions and radials figures which involve telomere sequences are the consequence of shortened telomeres, increase with disease progression and could be of predictive value.
Кључне речи:
Fanconi anemia / Fragile sites / Telomere fusions / Radial figures / X chromosomeИзвор:
Molecular Cytogenetics, 2016, 9Финансирање / пројекти:
- Радиосензитивност хуманог генома (RS-MESTD-Basic Research (BR or ON)-173046)
- DAAD [57127754]
DOI: 10.1186/s13039-016-0280-6
ISSN: 1755-8166
PubMed: 27625703
WoS: 000382983600001
Scopus: 2-s2.0-84986921914
Колекције
Институција/група
VinčaTY - JOUR AU - Filipović, Jelena G. AU - Joksić, Gordana AU - Vujić, Dragana AU - Joksić, Ivana AU - Mrasek, Kristin AU - Weise, Anja AU - Liehr, Thomas PY - 2016 UR - https://vinar.vin.bg.ac.rs/handle/123456789/1239 AB - Background: Fanconi anemia (FA) is a chromosomal instability syndrome characterized by increased frequency of chromosomal breakages, chromosomal radial figures and accelerated telomere shortening. In this work we performed detailed molecular-cytogenetic characterization of breakpoints in primary lymphocytes of FA-D2 patients in different stages of the disease using fluorescent in situ hybridization. Results: We found that chromosomal breakpoints co-localize on the molecular level with common fragile sites, whereas their distribution pattern depends on the severity of the disease. Telomere quantitative fluorescent in situ hybridization revealed that telomere fusions and radial figures, especially radials which involve telomere sequences are the consequence of critically shortened telomeres that increase with the disease progression and could be considered as a predictive parameter during the course of the disease. Sex chromosomes in FA cells are also involved in radial formation indicating that specific X chromosome regions share homology with autosomes and also could serve as repair templates in resolving DNA damage. Conclusions: FA-D2 chromosomal breakpoints co-localize with common fragile sites, but their distribution pattern depends on the disease stage. Telomere fusions and radials figures which involve telomere sequences are the consequence of shortened telomeres, increase with disease progression and could be of predictive value. T2 - Molecular Cytogenetics T1 - First molecular-cytogenetic characterization of Fanconi anemia fragile sites in primary lymphocytes of FA-D2 patients in different stages of the disease VL - 9 DO - 10.1186/s13039-016-0280-6 ER -
@article{ author = "Filipović, Jelena G. and Joksić, Gordana and Vujić, Dragana and Joksić, Ivana and Mrasek, Kristin and Weise, Anja and Liehr, Thomas", year = "2016", abstract = "Background: Fanconi anemia (FA) is a chromosomal instability syndrome characterized by increased frequency of chromosomal breakages, chromosomal radial figures and accelerated telomere shortening. In this work we performed detailed molecular-cytogenetic characterization of breakpoints in primary lymphocytes of FA-D2 patients in different stages of the disease using fluorescent in situ hybridization. Results: We found that chromosomal breakpoints co-localize on the molecular level with common fragile sites, whereas their distribution pattern depends on the severity of the disease. Telomere quantitative fluorescent in situ hybridization revealed that telomere fusions and radial figures, especially radials which involve telomere sequences are the consequence of critically shortened telomeres that increase with the disease progression and could be considered as a predictive parameter during the course of the disease. Sex chromosomes in FA cells are also involved in radial formation indicating that specific X chromosome regions share homology with autosomes and also could serve as repair templates in resolving DNA damage. Conclusions: FA-D2 chromosomal breakpoints co-localize with common fragile sites, but their distribution pattern depends on the disease stage. Telomere fusions and radials figures which involve telomere sequences are the consequence of shortened telomeres, increase with disease progression and could be of predictive value.", journal = "Molecular Cytogenetics", title = "First molecular-cytogenetic characterization of Fanconi anemia fragile sites in primary lymphocytes of FA-D2 patients in different stages of the disease", volume = "9", doi = "10.1186/s13039-016-0280-6" }
Filipović, J. G., Joksić, G., Vujić, D., Joksić, I., Mrasek, K., Weise, A.,& Liehr, T.. (2016). First molecular-cytogenetic characterization of Fanconi anemia fragile sites in primary lymphocytes of FA-D2 patients in different stages of the disease. in Molecular Cytogenetics, 9. https://doi.org/10.1186/s13039-016-0280-6
Filipović JG, Joksić G, Vujić D, Joksić I, Mrasek K, Weise A, Liehr T. First molecular-cytogenetic characterization of Fanconi anemia fragile sites in primary lymphocytes of FA-D2 patients in different stages of the disease. in Molecular Cytogenetics. 2016;9. doi:10.1186/s13039-016-0280-6 .
Filipović, Jelena G., Joksić, Gordana, Vujić, Dragana, Joksić, Ivana, Mrasek, Kristin, Weise, Anja, Liehr, Thomas, "First molecular-cytogenetic characterization of Fanconi anemia fragile sites in primary lymphocytes of FA-D2 patients in different stages of the disease" in Molecular Cytogenetics, 9 (2016), https://doi.org/10.1186/s13039-016-0280-6 . .