Author | Carvalho, Claudia Márcia Benedetto de | |
Author | Pfundt, Rolph | |
Author | King, Daniel A. | |
Author | Lindsay, Sarah J | |
Author | Zuccherato, Luciana W | |
Author | Macville, Merryn V E | |
Author | Pengfei, Liu | |
Author | Johnson, Diana | |
Author | Stankiewicz, Pawel | |
Author | Brown, Chester W | |
Author | Shaw, Chad A. | |
Author | Hurles, Matthew E. | |
Author | Grzegorz, Ira | |
Author | Hastings, PJ | |
Author | Brunner, Han G | |
Author | Lupski, James R. | |
Access date | 2015-12-17T12:29:16Z | |
Available date | 2015-12-17T12:29:16Z | |
Document date | 2015 | |
Citation | 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. | pt_BR |
ISSN | 0002-9297 | |
URI | https://www.arca.fiocruz.br/handle/icict/12438 | |
Language | eng | pt_BR |
Publisher | American Society of Human Genetics | pt_BR |
Rights | open access | pt_BR |
Title | Absence of Heterozygosity due to Template Switching during Replicative Rearrangements. | pt_BR |
Type | Article | pt_BR |
DOI | 10.1016/j.ajhg.2015.01.021 | |
Abstract | 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 disorders | pt_BR |
Affilliation | 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. | pt_BR |
Affilliation | Radboud University Nijmegen Medical Centre. Radboud University Medical Center Institute for Molecular Life Sciences. Department of Human Genetics. Nijmegen, the Netherlands. | pt_BR |
Affilliation | Wellcome Trust Sanger Institute. Cambridge, UK. | pt_BR |
Affilliation | Wellcome Trust Sanger Institute. Cambridge, UK. | pt_BR |
Affilliation | Baylor College of Medicine. Department of Molecular and Human Genetics. Houston, TX, USA | pt_BR |
Affilliation | Maastricht University Medical Center. Department of Clinical Genetics. Maastricht, the Netherlands. | pt_BR |
Affilliation | Baylor College of Medicine. Department of Molecular and Human Genetics. Houston, TX, USA | pt_BR |
Affilliation | Sheffield Children's NHS Foundation Trust. Sheffield Genetics Service. Sheffield, UK. | pt_BR |
Affilliation | Baylor College of Medicine. Department of Molecular and Human Genetics. Houston, TX, USA | pt_BR |
Affilliation | 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. | pt_BR |
Affilliation | Baylor College of Medicine. Department of Molecular and Human Genetics. Houston, TX, USA | pt_BR |
Affilliation | Wellcome Trust Sanger Institute. Cambridge, UK. | pt_BR |
Affilliation | Baylor College of Medicine. Department of Molecular and Human Genetics. Houston, TX, USA | pt_BR |
Affilliation | Baylor College of Medicine. Department of Molecular and Human Genetics. Houston, TX, USA | pt_BR |
Affilliation | Radboud 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. | pt_BR |
Affilliation | 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. | pt_BR |
Subject | DNA Copy Number Variations/genetics | pt_BR |
Subject | Models, Genetic | pt_BR |
Subject | Polymorphism, Single Nucleotide/genetics | pt_BR |
Subject | Sequence Analysis, DNA | pt_BR |