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

Detalhes bibliográficos
Autor(a) principal: Santos, Alexsandro dos
Data de Publicação: 2018
Outros Autores: Campagnari, Francine, Victorino Krepischi, Ana Cristina, Ribeiro Camara, Maria de Lourdes [UNESP], Arruda Brasil, Rita de Cassia E. de [UNESP], Vieira, Ligia, Vianna-Morgante, Angela M., Otto, Paulo A., Pearson, Peter L., Rosenberg, Carla
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da UNESP
Texto Completo: http://dx.doi.org/10.1007/s10577-018-9578-z
http://hdl.handle.net/11449/160547
Resumo: A 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.
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spelling Insight into the mechanisms and consequences of recurrent telomere capture associated with a sub-telomeric deletiontelomere captureUPDmosaicismSNP microarrayA 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.Brazilian National Council for Scientific and Technological DevelopmentFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)Univ Sao Paulo, Dept Genet & Evolutionary Biol, Inst Biosci, Rua Matao 277, BR-05508090 Sao Paulo, SP, BrazilSao Paulo State Univ, Fac Odontol, Ctr Odontol Assistance Patients Special Needs, Rodovia Marechal Rondon Km 528, BR-16018395 Aracatuba, SP, BrazilSao Paulo State Univ, Fac Odontol, Ctr Odontol Assistance Patients Special Needs, Rodovia Marechal Rondon Km 528, BR-16018395 Aracatuba, SP, BrazilBrazilian National Council for Scientific and Technological Development: CNPq-130185/2014-0Brazilian National Council for Scientific and Technological Development: 306879/2014-0FAPESP: FAPESP-2012/50981-5FAPESP: 2013/08028-1SpringerUniversidade de São Paulo (USP)Universidade Estadual Paulista (Unesp)Santos, Alexsandro dosCampagnari, FrancineVictorino Krepischi, Ana CristinaRibeiro Camara, Maria de Lourdes [UNESP]Arruda Brasil, Rita de Cassia E. de [UNESP]Vieira, LigiaVianna-Morgante, Angela M.Otto, Paulo A.Pearson, Peter L.Rosenberg, Carla2018-11-26T16:04:56Z2018-11-26T16:04:56Z2018-09-01info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article191-198application/pdfhttp://dx.doi.org/10.1007/s10577-018-9578-zChromosome Research. Dordrecht: Springer, v. 26, n. 3, p. 191-198, 2018.0967-3849http://hdl.handle.net/11449/16054710.1007/s10577-018-9578-zWOS:000443303700007WOS000443303700007.pdfWeb of Sciencereponame:Repositório Institucional da UNESPinstname:Universidade Estadual Paulista (UNESP)instacron:UNESPengChromosome Research1,425info:eu-repo/semantics/openAccess2023-11-18T06:17:49Zoai:repositorio.unesp.br:11449/160547Repositório InstitucionalPUBhttp://repositorio.unesp.br/oai/requestopendoar:29462024-08-05T18:06:04.931911Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP)false
dc.title.none.fl_str_mv Insight into the mechanisms and consequences of recurrent telomere capture associated with a sub-telomeric deletion
title Insight into the mechanisms and consequences of recurrent telomere capture associated with a sub-telomeric deletion
spellingShingle Insight into the mechanisms and consequences of recurrent telomere capture associated with a sub-telomeric deletion
Santos, Alexsandro dos
telomere capture
UPD
mosaicism
SNP microarray
title_short Insight into the mechanisms and consequences of recurrent telomere capture associated with a sub-telomeric deletion
title_full Insight into the mechanisms and consequences of recurrent telomere capture associated with a sub-telomeric deletion
title_fullStr Insight into the mechanisms and consequences of recurrent telomere capture associated with a sub-telomeric deletion
title_full_unstemmed Insight into the mechanisms and consequences of recurrent telomere capture associated with a sub-telomeric deletion
title_sort Insight into the mechanisms and consequences of recurrent telomere capture associated with a sub-telomeric deletion
author Santos, Alexsandro dos
author_facet Santos, Alexsandro dos
Campagnari, Francine
Victorino Krepischi, Ana Cristina
Ribeiro Camara, Maria de Lourdes [UNESP]
Arruda Brasil, Rita de Cassia E. de [UNESP]
Vieira, Ligia
Vianna-Morgante, Angela M.
Otto, Paulo A.
Pearson, Peter L.
Rosenberg, Carla
author_role author
author2 Campagnari, Francine
Victorino Krepischi, Ana Cristina
Ribeiro Camara, Maria de Lourdes [UNESP]
Arruda Brasil, Rita de Cassia E. de [UNESP]
Vieira, Ligia
Vianna-Morgante, Angela M.
Otto, Paulo A.
Pearson, Peter L.
Rosenberg, Carla
author2_role author
author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Universidade de São Paulo (USP)
Universidade Estadual Paulista (Unesp)
dc.contributor.author.fl_str_mv Santos, Alexsandro dos
Campagnari, Francine
Victorino Krepischi, Ana Cristina
Ribeiro Camara, Maria de Lourdes [UNESP]
Arruda Brasil, Rita de Cassia E. de [UNESP]
Vieira, Ligia
Vianna-Morgante, Angela M.
Otto, Paulo A.
Pearson, Peter L.
Rosenberg, Carla
dc.subject.por.fl_str_mv telomere capture
UPD
mosaicism
SNP microarray
topic telomere capture
UPD
mosaicism
SNP microarray
description A 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.
publishDate 2018
dc.date.none.fl_str_mv 2018-11-26T16:04:56Z
2018-11-26T16:04:56Z
2018-09-01
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://dx.doi.org/10.1007/s10577-018-9578-z
Chromosome Research. Dordrecht: Springer, v. 26, n. 3, p. 191-198, 2018.
0967-3849
http://hdl.handle.net/11449/160547
10.1007/s10577-018-9578-z
WOS:000443303700007
WOS000443303700007.pdf
url http://dx.doi.org/10.1007/s10577-018-9578-z
http://hdl.handle.net/11449/160547
identifier_str_mv Chromosome Research. Dordrecht: Springer, v. 26, n. 3, p. 191-198, 2018.
0967-3849
10.1007/s10577-018-9578-z
WOS:000443303700007
WOS000443303700007.pdf
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Chromosome Research
1,425
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv 191-198
application/pdf
dc.publisher.none.fl_str_mv Springer
publisher.none.fl_str_mv Springer
dc.source.none.fl_str_mv Web of Science
reponame:Repositório Institucional da UNESP
instname:Universidade Estadual Paulista (UNESP)
instacron:UNESP
instname_str Universidade Estadual Paulista (UNESP)
instacron_str UNESP
institution UNESP
reponame_str Repositório Institucional da UNESP
collection Repositório Institucional da UNESP
repository.name.fl_str_mv Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP)
repository.mail.fl_str_mv
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