Insight into the mechanisms and consequences of recurrent telomere capture associated with a sub-telomeric deletion
Autor(a) principal: | |
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Data de Publicação: | 2018 |
Outros Autores: | , , , , , , , , |
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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Repositório Institucional da UNESP |
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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 |
|
_version_ |
1808128894108172288 |