FoSTeS, MMBIR and NAHR at the human proximal Xp region and the mechanisms of human Xq isochromosome formation

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dc.contributor.authorKoumbaris, G.en
dc.contributor.authorHatzisevastou-Loukidou, H.en
dc.contributor.authorAlexandrou, A.en
dc.contributor.authorIoannides, M.en
dc.contributor.authorChristodoulou, C.en
dc.contributor.authorFitzgerald, T.en
dc.contributor.authorRajan, D.en
dc.contributor.authorClayton, S.en
dc.contributor.authorKitsiou-Tzeli, S.en
dc.contributor.authorVermeesch, J. R.en
dc.contributor.authorSkordis, N.en
dc.contributor.authorAntoniou, P.en
dc.contributor.authorKurg, A.en
dc.contributor.authorGeorgiou, I.en
dc.contributor.authorCarter, N. P.en
dc.contributor.authorPatsalis, P. C.en
dc.date.accessioned2015-11-24T18:27:58Z
dc.date.available2015-11-24T18:27:58Z
dc.identifier.issn0964-6906-
dc.identifier.urihttps://olympias.lib.uoi.gr/jspui/handle/123456789/16111
dc.rightsDefault Licence-
dc.subjectserial replication slippageen
dc.subjectnearby inverted repeatsen
dc.subjectalpha-satellite DNAen
dc.subjecthuman genomeen
dc.subjectcopy numberen
dc.subjectchromosome centromereen
dc.subjectmeiotic recombinationen
dc.subjectstructural variationen
dc.subjectmental-retardationen
dc.subjectturner syndromeen
dc.titleFoSTeS, MMBIR and NAHR at the human proximal Xp region and the mechanisms of human Xq isochromosome formationen
heal.abstractThe recently described DNA replication-based mechanisms of fork stalling and template switching (FoSTeS) and microhomology-mediated break-induced replication (MMBIR) were previously shown to catalyze complex exonic, genic and genomic rearrangements. By analyzing a large number of isochromosomes of the long arm of chromosome X (i(Xq)), using whole-genome tiling path array comparative genomic hybridization (aCGH), ultra-high resolution targeted aCGH and sequencing, we provide evidence that the FoSTeS and MMBIR mechanisms can generate large-scale gross chromosomal rearrangements leading to the deletion and duplication of entire chromosome arms, thus suggesting an important role for DNA replication-based mechanisms in both the development of genomic disorders and cancer. Furthermore, we elucidate the mechanisms of dicentric i(Xq) (idic(Xq)) formation and show that most idic(Xq) chromosomes result from non-allelic homologous recombination between palindromic low copy repeats and highly homologous palindromic LINE elements. We also show that non-recurrent-breakpoint idic(Xq) chromosomes have microhomology-associated breakpoint junctions and are likely catalyzed by microhomology-mediated replication-dependent recombination mechanisms such as FoSTeS and MMBIR. Finally, we stress the role of the proximal Xp region as a chromosomal rearrangement hotspot.en
heal.accesscampus-
heal.fullTextAvailabilityTRUE-
heal.identifier.primaryDoi 10.1093/Hmg/Ddr074-
heal.identifier.secondary<Go to ISI>://000289837400006-
heal.identifier.secondaryhttp://hmg.oxfordjournals.org/content/20/10/1925.full.pdf-
heal.journalNameHum Mol Geneten
heal.journalTypepeer reviewed-
heal.languageen-
heal.publicationDate2011-
heal.recordProviderΠανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών και Τεχνολογιών. Τμήμα Βιολογικών Εφαρμογών και Τεχνολογιώνel
heal.typejournalArticle-
heal.type.elΆρθρο Περιοδικούel
heal.type.enJournal articleen

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