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Absence of heterozygosity due to template switching during replicative rearrangements.
Carvalho, Claudia M B; Pfundt, Rolph; King, Daniel A; Lindsay, Sarah J; Zuccherato, Luciana W; Macville, Merryn V E; Liu, Pengfei; Johnson, Diana; Stankiewicz, Pawel; Brown, Chester W; Shaw, Chad A; Hurles, Matthew E; Ira, Grzegorz; Hastings, P J; Brunner, Han G; Lupski, James R.
Afiliação
  • Carvalho CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Centro de Pesquisas René Rachou - FIOCRUZ, Belo Horizonte, MG 30190-002, Brazil.
  • Pfundt R; Department of Human Genetics, Radboud University Medical Center Institute for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, the Netherlands.
  • King DA; Wellcome Trust Sanger Institute, Cambridge CB10 1SA, UK.
  • Lindsay SJ; Wellcome Trust Sanger Institute, Cambridge CB10 1SA, UK.
  • Zuccherato LW; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Macville MV; Department of Clinical Genetics, Maastricht University Medical Center, 6202 AZ, Maastricht, the Netherlands.
  • Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Johnson D; Sheffield Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield S10 2TH, UK.
  • Stankiewicz P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Brown CW; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.
  • Shaw CA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Hurles ME; Wellcome Trust Sanger Institute, Cambridge CB10 1SA, UK.
  • Ira G; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Hastings PJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Brunner HG; Department of Human Genetics, Radboud University Medical Center Institute for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, the Netherlands; Department of Clinical Genetics, Maastricht University Medical Center, 6202 AZ, Maastricht, the Netherlands.
  • Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 770
Am J Hum Genet ; 96(4): 555-64, 2015 Apr 02.
Article em En | MEDLINE | ID: mdl-25799105
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.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Rearranjo Gênico / Perda de Heterozigosidade / Dissomia Uniparental / Reparo do DNA / Replicação do DNA / Variações do Número de Cópias de DNA / Modelos Genéticos Tipo de estudo: Prognostic_studies Limite: Humans País como assunto: Europa Idioma: En Ano de publicação: 2015 Tipo de documento: Article
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Rearranjo Gênico / Perda de Heterozigosidade / Dissomia Uniparental / Reparo do DNA / Replicação do DNA / Variações do Número de Cópias de DNA / Modelos Genéticos Tipo de estudo: Prognostic_studies Limite: Humans País como assunto: Europa Idioma: En Ano de publicação: 2015 Tipo de documento: Article