Insight into the mechanisms and consequences of recurrent telomere capture associated with a sub-telomeric deletion

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MetadadosDescriçãoIdioma
Autor(es): dc.contributorUniversidade Estadual Paulista (UNESP)-
Autor(es): dc.creatorSantos, Alexsandro dos-
Autor(es): dc.creatorCampagnari, Francine-
Autor(es): dc.creatorVictorino Krepischi, Ana Cristina-
Autor(es): dc.creatorRibeiro Camara, Maria de Lourdes-
Autor(es): dc.creatorArruda Brasil, Rita de Cassia E. de-
Autor(es): dc.creatorVieira, Ligia-
Autor(es): dc.creatorVianna-Morgante, Angela M.-
Autor(es): dc.creatorOtto, Paulo A.-
Autor(es): dc.creatorPearson, Peter L.-
Autor(es): dc.creatorRosenberg, Carla-
Data de aceite: dc.date.accessioned2021-03-10T23:47:54Z-
Data de disponibilização: dc.date.available2021-03-10T23:47:54Z-
Data de envio: dc.date.issued2018-11-26-
Data de envio: dc.date.issued2018-11-26-
Data de envio: dc.date.issued2018-09-01-
Fonte completa do material: dc.identifierhttp://dx.doi.org/10.1007/s10577-018-9578-z-
Fonte completa do material: dc.identifierhttp://hdl.handle.net/11449/160547-
Fonte: dc.identifier.urihttp://educapes.capes.gov.br/handle/11449/160547-
Descrição: dc.descriptionBrazilian National Council for Scientific and Technological Development-
Descrição: dc.descriptionFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)-
Descrição: dc.descriptionBrazilian National Council for Scientific and Technological Development: CNPq-130185/2014-0-
Descrição: dc.descriptionBrazilian National Council for Scientific and Technological Development: 306879/2014-0-
Descrição: dc.descriptionProcesso FAPESP: FAPESP-2012/50981-5-
Descrição: dc.descriptionProcesso FAPESP: 2013/08028-1-
Descrição: dc.descriptionA complex mosaicism of the short arm of chromosome 1 detected by SNP microarray analysis is described in a patient presenting a 4-Mb 1p36 terminal deletion and associated phenotypic features. The array pattern of chromosome 1p displayed an intriguing increase in divergence of the SNP heterozygote frequency from the expected 50% from the centromere towards the 1p36 breakpoint. This suggests that various overlapping segments of UPD were derived by somatic recombination between the 1p homologues. The most likely explanation was the occurrence of a series of events initiated in either a gamete or an early embryonic cell division involving a 1pter deletion rapidly followed by multiple telomere captures, resulting in additive, stepped increases in frequency of homozygosity towards the telomere. The largest segment involved the entire 1p, and at least four other capture events were observed, indicating that at least five independent telomere captures occurred in separate cell lineages. The determination of breakpoint position by detection of abrupt changes in B-allele frequency using a moving window analysis demonstrated that they were identical in blood and saliva, the tissues available for analysis. We developed a model to explain the interaction of parameters determining the mosaic clones and concluded that, while number, size, and position of telomere captures were important initiating determinants, variation in individual clone frequencies was the main contributor to mosaic differences between tissues. All previous reports of telomere capture have been restricted to single events. Other cases involving multiple telomere capture probably exist but require investigation by SNP microarrays for their detection.-
Formato: dc.format191-198-
Idioma: dc.languageen-
Publicador: dc.publisherSpringer-
Relação: dc.relationChromosome Research-
Relação: dc.relation1,425-
Direitos: dc.rightsopenAccess-
Palavras-chave: dc.subjecttelomere capture-
Palavras-chave: dc.subjectUPD-
Palavras-chave: dc.subjectmosaicism-
Palavras-chave: dc.subjectSNP microarray-
Título: dc.titleInsight into the mechanisms and consequences of recurrent telomere capture associated with a sub-telomeric deletion-
Tipo de arquivo: dc.typelivro digital-
Aparece nas coleções:Repositório Institucional - Unesp

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