ArticleCell2017
An Organismal CNV Mutator Phenotype Restricted to Early Human Development.
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Article in Cell, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 papers.
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55 citing papers in PubMed, 112 citations in OpenAlex.
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Authors and funding
32 authors at 8 institutions in 5 countries.
Pengfei LiuDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA. Electronic address: pengfei.liu@bcm.edu.
Bo YuanDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Claudia M B CarvalhoDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Arthur WusterWellcome Trust Sanger Institute, Hinxton CB10 1SA, UK.
Klaudia WalterWellcome Trust Sanger Institute, Hinxton CB10 1SA, UK.
Ling ZhangCollaborative Innovation Center of Genetics and Development, Institute of Reproduction and Development, Obstetrics and Gynecology Hospital of Fudan University, Shanghai 200011, China.
Tomasz GambinDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Zechen ChongDepartment of Bioinformatics and Computational Biology, University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
Ian M CampbellDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Zeynep Coban AkdemirDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Violet GelowaniDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Karin WritzlClinical Institute of Medical Genetics, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia.
Carlos A BacinoDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA; Texas Children's Hospital, Houston, TX 77030, USA.
Sarah J LindsayWellcome Trust Sanger Institute, Hinxton CB10 1SA, UK.
Marjorie WithersDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Claudia Gonzaga-JaureguiDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Joanna WiszniewskaDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Jennifer ScullDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA.
Paweł StankiewiczDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA.
Shalini N JhangianiDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
Donna M MuznyDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
Feng ZhangCollaborative Innovation Center of Genetics and Development, Institute of Reproduction and Development, Obstetrics and Gynecology Hospital of Fudan University, Shanghai 200011, China.
Ken ChenDepartment of Bioinformatics and Computational Biology, University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
Richard A GibbsDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
Bernd RautenstraussMedical Genetics Center, Bayerstrasse 3-5, 80335 Munich, Germany.
Sau Wai CheungDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA.
Janice SmithDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA.
Amy BremanDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA.
Chad A ShawDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA.
Ankita PatelDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA.
Matthew E HurlesWellcome Trust Sanger Institute, Hinxton CB10 1SA, UK.
James R LupskiDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA. Electronic address: jlupski@bcm.edu.
Baylor College of Medicine · USWellcome Sanger Institute · GBBaylor Genetics · USObstetrics and Gynecology Hospital of Fudan University · CNTexas Children's Hospital · USThe University of Texas MD Anderson Cancer Center · USBayer (Germany) · DELjubljana University Medical Centre · SI
Funding
The Human Genome Sequencing CenterU54HG003273 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI GIBBS, RICHARD A · 2004 to 2015
$341.3MUNDERSTANDING FXTAS AMONG MALES WITH THE FMR1 PREMUTATIONP30HD024064 · NICHD · BAYLOR COLLEGE OF MEDICINE · PI TOLIAS, KIMBERLY R · 1988 to 2013
$29.4MBaylor-Johns Hopkins Center for Mendelian GeneticsU54HG006542 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 2012 to 2015
$15.6MNonrecurrent rearrangements, genome architecture and neurodegenerative disease.R01NS058529 · NINDS · BAYLOR COLLEGE OF MEDICINE · PI LUPSKI, JAMES R. · 2009 to 2017
$5.0MDelineating Heterogeneous Structural Complexity in Cancer GenomesR01CA172652 · NCI · UNIVERSITY OF TX MD ANDERSON CAN CTR · PI CHEN, KEN · 2013 to 2016
$1.4MNCI NIH HHS R01 CA172652NHGRI NIH HHS U54 HG003273NHGRI NIH HHS U54 HG006542NICHD NIH HHS P30 HD024064NINDS NIH HHS R01 NS058529Wellcome Trust
Abstract
De novo copy number variants (dnCNVs) arising at multiple loci in a personal genome have usually been considered to reflect cancer somatic genomic instabilities. We describe a multiple dnCNV (MdnCNV) phenomenon in which individuals with genomic disorders carry five to ten constitutional dnCNVs. These CNVs originate from independent formation incidences, are predominantly tandem duplications or complex gains, exhibit breakpoint junction features reminiscent of replicative repair, and show increased de novo point mutations flanking the rearrangement junctions. The active CNV mutation shower appears to be restricted to a transient perizygotic period. We propose that a defect in the CNV formation process is responsible for the "CNV-mutator state," and this state is dampened after early embryogenesis. The constitutional MdnCNV phenomenon resembles chromosomal instability in various cancers. Investigations of this phenomenon may provide unique access to understanding genomic disorders, structural variant mutagenesis, human evolution, and cancer biology.
Indexed as
Chromosome AberrationsDNA Copy Number VariationsGenomic InstabilityMutationChromosome BreakpointsChromosome DuplicationDNA ReplicationEmbryonic DevelopmentFemaleGametogenesisGenetic Diseases, InbornHumansMalecancerCNVde novoDNA replicationduplicationgenomic instabilitygermlinemutator
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