Absence of Heterozygosity due to Template Switching during Replicative Rearrangements.

Detalhes bibliográficos
Autor(a) principal: Carvalho, Claudia Márcia Benedetto de
Data de Publicação: 2015
Outros Autores: Pfundt, Rolph, King, Daniel A., Lindsay, Sarah J, Zuccherato, Luciana W, Macville, Merryn V E, Pengfei, Liu, Johnson, Diana, Stankiewicz, Pawel, Brown, Chester W, Shaw, Chad A., Hurles, Matthew E., Grzegorz, Ira, Hastings, PJ, Brunner, Han G, Lupski, James R.
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da FIOCRUZ (ARCA)
Texto Completo: https://www.arca.fiocruz.br/handle/icict/12438
Resumo: Baylor College of Medicine. Department of Molecular and Human Genetics. Houston, TX, USA/Fundação Oswaldo Cruz. Centro de Pesquisas René Rachou. Belo Horizonte, MG, Brasil.
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spelling Carvalho, Claudia Márcia Benedetto dePfundt, RolphKing, Daniel A.Lindsay, Sarah JZuccherato, Luciana WMacville, Merryn V EPengfei, LiuJohnson, DianaStankiewicz, PawelBrown, Chester WShaw, Chad A.Hurles, Matthew E.Grzegorz, IraHastings, PJBrunner, Han GLupski, James R.2015-12-17T12:29:16Z2015-12-17T12:29:16Z2015CARVALHO, Claudia Márcia Benedetto et al. Absence of Heterozygosity due to Template Switching during Replicative Rearrangements. Am J Hum Genet., vol. 96, n. 4, p. 555-64, 2015.0002-9297https://www.arca.fiocruz.br/handle/icict/1243810.1016/j.ajhg.2015.01.021engAmerican Society of Human GeneticsAbsence of Heterozygosity due to Template Switching during Replicative Rearrangements.info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleBaylor College of Medicine. Department of Molecular and Human Genetics. Houston, TX, USA/Fundação Oswaldo Cruz. Centro de Pesquisas René Rachou. Belo Horizonte, MG, Brasil.Radboud University Nijmegen Medical Centre. Radboud University Medical Center Institute for Molecular Life Sciences. Department of Human Genetics. Nijmegen, the Netherlands.Wellcome Trust Sanger Institute. Cambridge, UK.Wellcome Trust Sanger Institute. Cambridge, UK.Baylor College of Medicine. Department of Molecular and Human Genetics. Houston, TX, USAMaastricht University Medical Center. Department of Clinical Genetics. Maastricht, the Netherlands.Baylor College of Medicine. Department of Molecular and Human Genetics. Houston, TX, USASheffield Children's NHS Foundation Trust. Sheffield Genetics Service. Sheffield, UK.Baylor College of Medicine. Department of Molecular and Human Genetics. Houston, TX, USABaylor College of Medicine. Department of Molecular and Human Genetics. Houston, TX, USA/Baylor College of Medicine. Department of Pediatrics. Houston, TX, USA/Texas Children's Hospital. Houston, TX, USA.Baylor College of Medicine. Department of Molecular and Human Genetics. Houston, TX, USAWellcome Trust Sanger Institute. Cambridge, UK.Baylor College of Medicine. Department of Molecular and Human Genetics. Houston, TX, USABaylor College of Medicine. Department of Molecular and Human Genetics. Houston, TX, USARadboud University Nijmegen Medical Centre.Radboud University Medical Center Institute for Molecular Life Sciences. Department of Human Genetics. Nijmegen, the Netherlands/ Maastricht University Medical Center. Department of Clinical Genetics. Maastricht, the Netherlands.Baylor College of Medicine. Department of Molecular and Human Genetics. Houston, TX, USA/Baylor College of Medicine. Department of Pediatrics. Houston, TX, USA/ Texas Children's Hospital Houston, TX, USA/Baylor College of Medicine. Human Genome Sequencing Center. Houston, TX, USA.We investigated complex genomic rearrangements (CGRs) consisting of triplication copy-number variants (CNVs) that were accompanied by extended regions of copy-number-neutral absence of heterozygosity (AOH) in subjects with multiple congenital abnormalities. Molecular analyses provided observational evidence that in humans, post-zygotically generated CGRs can lead to regional uniparental disomy (UPD) due to template switches between homologs versus sister chromatids by using microhomology to prime DNA replication—a prediction of the replicative repair model, MMBIR. Our findings suggest that replication-based mechanisms might underlie the formation of diverse types of genomic alterations (CGRs and AOH) implicated in constitutional disordersDNA Copy Number Variations/geneticsModels, GeneticPolymorphism, Single Nucleotide/geneticsSequence Analysis, DNAinfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da FIOCRUZ (ARCA)instname:Fundação Oswaldo Cruz (FIOCRUZ)instacron:FIOCRUZLICENSElicense.txtlicense.txttext/plain; charset=utf-82991https://www.arca.fiocruz.br/bitstream/icict/12438/1/license.txt5a560609d32a3863062d77ff32785d58MD51ORIGINALAbsence of Heterozygosity Due to Template Switching during Replicative Rearrangements - 1-s2.0-S0002929715000531-main.pdfAbsence of Heterozygosity Due to Template Switching during Replicative Rearrangements - 1-s2.0-S0002929715000531-main.pdfapplication/pdf6000798https://www.arca.fiocruz.br/bitstream/icict/12438/2/Absence%20of%20Heterozygosity%20Due%20to%20Template%20Switching%20during%20Replicative%20Rearrangements%20-%201-s2.0-S0002929715000531-main.pdfe2645985823347af2ae9e5c0a781029eMD52TEXTAbsence of Heterozygosity Due to Template Switching during Replicative Rearrangements - 1-s2.0-S0002929715000531-main.pdf.txtAbsence of Heterozygosity Due to Template Switching during Replicative Rearrangements - 1-s2.0-S0002929715000531-main.pdf.txtExtracted texttext/plain16https://www.arca.fiocruz.br/bitstream/icict/12438/3/Absence%20of%20Heterozygosity%20Due%20to%20Template%20Switching%20during%20Replicative%20Rearrangements%20-%201-s2.0-S0002929715000531-main.pdf.txt37795bfe5dced5eebb96445d11bbdef3MD53icict/124382019-06-19 10:07:09.89oai:www.arca.fiocruz.br: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ório InstitucionalPUBhttps://www.arca.fiocruz.br/oai/requestrepositorio.arca@fiocruz.bropendoar:21352019-06-19T13:07:09Repositório Institucional da FIOCRUZ (ARCA) - 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dc.title.pt_BR.fl_str_mv Absence of Heterozygosity due to Template Switching during Replicative Rearrangements.
title Absence of Heterozygosity due to Template Switching during Replicative Rearrangements.
spellingShingle Absence of Heterozygosity due to Template Switching during Replicative Rearrangements.
Carvalho, Claudia Márcia Benedetto de
DNA Copy Number Variations/genetics
Models, Genetic
Polymorphism, Single Nucleotide/genetics
Sequence Analysis, DNA
title_short Absence of Heterozygosity due to Template Switching during Replicative Rearrangements.
title_full Absence of Heterozygosity due to Template Switching during Replicative Rearrangements.
title_fullStr Absence of Heterozygosity due to Template Switching during Replicative Rearrangements.
title_full_unstemmed Absence of Heterozygosity due to Template Switching during Replicative Rearrangements.
title_sort Absence of Heterozygosity due to Template Switching during Replicative Rearrangements.
author Carvalho, Claudia Márcia Benedetto de
author_facet Carvalho, Claudia Márcia Benedetto de
Pfundt, Rolph
King, Daniel A.
Lindsay, Sarah J
Zuccherato, Luciana W
Macville, Merryn V E
Pengfei, Liu
Johnson, Diana
Stankiewicz, Pawel
Brown, Chester W
Shaw, Chad A.
Hurles, Matthew E.
Grzegorz, Ira
Hastings, PJ
Brunner, Han G
Lupski, James R.
author_role author
author2 Pfundt, Rolph
King, Daniel A.
Lindsay, Sarah J
Zuccherato, Luciana W
Macville, Merryn V E
Pengfei, Liu
Johnson, Diana
Stankiewicz, Pawel
Brown, Chester W
Shaw, Chad A.
Hurles, Matthew E.
Grzegorz, Ira
Hastings, PJ
Brunner, Han G
Lupski, James R.
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
dc.contributor.author.fl_str_mv Carvalho, Claudia Márcia Benedetto de
Pfundt, Rolph
King, Daniel A.
Lindsay, Sarah J
Zuccherato, Luciana W
Macville, Merryn V E
Pengfei, Liu
Johnson, Diana
Stankiewicz, Pawel
Brown, Chester W
Shaw, Chad A.
Hurles, Matthew E.
Grzegorz, Ira
Hastings, PJ
Brunner, Han G
Lupski, James R.
dc.subject.en.pt_BR.fl_str_mv DNA Copy Number Variations/genetics
Models, Genetic
Polymorphism, Single Nucleotide/genetics
Sequence Analysis, DNA
topic DNA Copy Number Variations/genetics
Models, Genetic
Polymorphism, Single Nucleotide/genetics
Sequence Analysis, DNA
description Baylor College of Medicine. Department of Molecular and Human Genetics. Houston, TX, USA/Fundação Oswaldo Cruz. Centro de Pesquisas René Rachou. Belo Horizonte, MG, Brasil.
publishDate 2015
dc.date.accessioned.fl_str_mv 2015-12-17T12:29:16Z
dc.date.available.fl_str_mv 2015-12-17T12:29:16Z
dc.date.issued.fl_str_mv 2015
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.citation.fl_str_mv CARVALHO, Claudia Márcia Benedetto et al. Absence of Heterozygosity due to Template Switching during Replicative Rearrangements. Am J Hum Genet., vol. 96, n. 4, p. 555-64, 2015.
dc.identifier.uri.fl_str_mv https://www.arca.fiocruz.br/handle/icict/12438
dc.identifier.issn.none.fl_str_mv 0002-9297
dc.identifier.doi.none.fl_str_mv 10.1016/j.ajhg.2015.01.021
identifier_str_mv CARVALHO, Claudia Márcia Benedetto et al. Absence of Heterozygosity due to Template Switching during Replicative Rearrangements. Am J Hum Genet., vol. 96, n. 4, p. 555-64, 2015.
0002-9297
10.1016/j.ajhg.2015.01.021
url https://www.arca.fiocruz.br/handle/icict/12438
dc.language.iso.fl_str_mv eng
language eng
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv American Society of Human Genetics
publisher.none.fl_str_mv American Society of Human Genetics
dc.source.none.fl_str_mv reponame:Repositório Institucional da FIOCRUZ (ARCA)
instname:Fundação Oswaldo Cruz (FIOCRUZ)
instacron:FIOCRUZ
instname_str Fundação Oswaldo Cruz (FIOCRUZ)
instacron_str FIOCRUZ
institution FIOCRUZ
reponame_str Repositório Institucional da FIOCRUZ (ARCA)
collection Repositório Institucional da FIOCRUZ (ARCA)
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