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dc.creatorFilipović, Jelena G.
dc.creatorJoksić, Gordana
dc.creatorVujic, Dragana
dc.creatorJoksić, Ivana
dc.creatorMrasek, Kristin
dc.creatorWeise, Anja
dc.creatorLiehr, Thomas
dc.date.accessioned2018-03-01T17:08:12Z
dc.date.available2018-03-01T17:08:12Z
dc.date.issued2016
dc.identifier.issn1755-8166 (print)
dc.identifier.urihttp://vinar.vin.bg.ac.rs/handle/123456789/1239
dc.description.abstractBackground: 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.en
dc.relationinfo:eu-repo/grantAgreement/MESTD/Basic Research (BR or ON)/173046/RS//
dc.relationDAAD [57127754]
dc.rightsopenAccessen
dc.sourceMolecular Cytogeneticsen
dc.subjectFanconi anemiaen
dc.subjectFragile sitesen
dc.subjectTelomere fusionsen
dc.subjectRadial figuresen
dc.subjectX chromosomeen
dc.titleFirst molecular-cytogenetic characterization of Fanconi anemia fragile sites in primary lymphocytes of FA-D2 patients in different stages of the diseaseen
dc.typearticleen
dcterms.abstractМрасек, Кристин; Јоксић Гордана; Филиповиц, Јелена; Јоксић Ивана; Вујиц, Драгана; Wеисе, Aња; Лиехр, Тхомас;
dc.citation.volume9
dc.identifier.wos000382983600001
dc.identifier.doi10.1186/s13039-016-0280-6
dc.citation.otherArticle Number: 70
dc.citation.rankM23
dc.identifier.pmid27625703
dc.identifier.scopus2-s2.0-84986921914
dc.identifier.fulltexthttp://vinar.vin.bg.ac.rs//bitstream/id/11635/1235.pdf


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