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Replicative and non...
Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization
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- Nazaryan-Petersen, Lusine (author)
- Univ Copenhagen, Wilhelm Johannsen Ctr Funct Genome Res, Inst Cellular & Mol Med, Copenhagen, Denmark.
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- Eisfeldt, Jesper (author)
- Karolinska Institutet,Karolinska Inst, Sweden; Karolinska Inst Sci Pk, Sweden
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- Pettersson, Maria (author)
- Karolinska Institutet,Karolinska Inst, Sweden
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- Lundin, Johanna (author)
- Karolinska Institutet,Karolinska Inst, Sweden; Karolinska Univ Hosp, Sweden
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- Nilsson, Daniel (author)
- Karolinska Institutet,Karolinska Inst, Sweden; Karolinska Inst Sci Pk, Sweden; Karolinska Univ Hosp, Sweden
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- Wincent, Josephine (author)
- Karolinska Institutet,Karolinska Inst, Sweden; Karolinska Univ Hosp, Sweden
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- Lieden, Agne (author)
- Karolinska Institutet,Karolinska Inst, Sweden; Karolinska Univ Hosp, Sweden
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- Lovmar, Lovisa (author)
- Sahlgrens Univ Hosp, Dept Clin Genet, Gothenburg, Sweden.
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- Ottosson, Jesper (author)
- Sahlgrens Univ Hosp, Dept Clin Genet, Gothenburg, Sweden.
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- Gacic, Jelena, 1986- (author)
- Linköpings universitet,Avdelningen för cellbiologi,Medicinska fakulteten,Region Östergötland, Klinisk genetik
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- Makitie, Outi (author)
- Karolinska Institutet,Karolinska Inst, Sweden; Karolinska Univ Hosp, Sweden; Univ Helsinki, Finland; Helsinki Univ Hosp, Finland; Folkhalsan Inst Genet, Finland
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- Nordgren, Ann (author)
- Karolinska Institutet,Karolinska Inst, Sweden; Karolinska Univ Hosp, Sweden
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- Vezzi, Francesco (author)
- Stockholms universitet,Institutionen för biokemi och biofysik,Science for Life Laboratory (SciLifeLab),Stockholm Univ, SciLifeLab, Dept Biochem & Biophys, Stockholm, Sweden.;Devyser AB, Instrumentvagen 19, Hagersten, Sweden.
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- Wirta, Valtteri (author)
- Karolinska Institutet,KTH,Skolan för kemi, bioteknologi och hälsa (CBH),Science for Life Laboratory, SciLifeLab,KTH Royal Inst Technol, Sweden; Karolinska Inst, Sweden
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- Käller, Max (author)
- KTH,Skolan för kemi, bioteknologi och hälsa (CBH),Science for Life Laboratory, SciLifeLab,KTH Royal Inst Technol, Sweden; Karolinska Inst, Sweden
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- Hjortshoj, Tina Duelund (author)
- Rigshosp, Kennedy Ctr, Dept Clin Genet, Copenhagen Univ Hosp, Glostrup, Denmark.
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- Jespersgaard, Cathrine (author)
- Rigshosp, Kennedy Ctr, Dept Clin Genet, Copenhagen Univ Hosp, Glostrup, Denmark.
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- Houssari, Rayan (author)
- Rigshosp, Kennedy Ctr, Dept Clin Genet, Copenhagen Univ Hosp, Glostrup, Denmark.
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- Pignata, Laura (author)
- Rigshosp, Kennedy Ctr, Dept Clin Genet, Copenhagen Univ Hosp, Glostrup, Denmark.
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- Bak, Mads (author)
- Univ Copenhagen, Wilhelm Johannsen Ctr Funct Genome Res, Inst Cellular & Mol Med, Copenhagen, Denmark.
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- Tommerup, Niels (author)
- Univ Copenhagen, Wilhelm Johannsen Ctr Funct Genome Res, Inst Cellular & Mol Med, Copenhagen, Denmark.
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- Lundberg, Elisabeth Syk (author)
- Karolinska Institutet,Karolinska Inst, Sweden; Karolinska Univ Hosp, Sweden
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- Tumer, Zeynep (author)
- Rigshosp, Kennedy Ctr, Dept Clin Genet, Copenhagen Univ Hosp, Glostrup, Denmark.;Univ Copenhagen, Fac Hlth & Med Sci, Dept Clin Med, Copenhagen, Denmark.
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- Lindstrand, Anna (author)
- Karolinska Institutet,Karolinska Inst, Sweden; Karolinska Univ Hosp, Sweden
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Karolinska Institutet Univ Copenhagen, Wilhelm Johannsen Ctr Funct Genome Res, Inst Cellular & Mol Med, Copenhagen, Denmark (creator_code:org_t)
- 2018-11-12
- 2018
- English.
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In: PLOS Genetics. - : Public Library of Science. - 1553-7390 .- 1553-7404. ; 14:11
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https://doi.org/10.1...
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Abstract
Subject headings
Close
- Clustered copy number variants (CNVs) as detected by chromosomal microarray analysis (CMA) are often reported as germline chromothripsis. However, such cases might need further investigations by massive parallel whole genome sequencing (WGS) in order to accurately define the underlying complex rearrangement, predict the occurrence mechanisms and identify additional complexities. Here, we utilized WGS to delineate the rearrangement structure of 21 clustered CNV carriers first investigated by CMA and identified a total of 83 breakpoint junctions (BPJs). The rearrangements were further sub-classified depending on the patterns observed: I) Cases with only deletions (n = 8) often had additional structural rearrangements, such as insertions and inversions typical to chromothripsis; II) cases with only duplications (n = 7) or III) combinations of deletions and duplications (n = 6) demonstrated mostly interspersed duplications and BPJs enriched with microhomology. In two cases the rearrangement mutational signatures indicated both a breakage-fusion-bridge cycle process and haltered formation of a ring chromosome. Finally, we observed two cases with Alu- and LINE-mediated rearrangements as well as two unrelated individuals with seemingly identical clustered CNVs on 2p25.3, possibly a rare European founder rearrangement. In conclusion, through detailed characterization of the derivative chromosomes we show that multiple mechanisms are likely involved in the formation of clustered CNVs and add further evidence for chromoanagenesis mechanisms in both "simple" and highly complex chromosomal rearrangements. Finally, WGS characterization adds positional information, important for a correct clinical interpretation and deciphering mechanisms involved in the formation of these rearrangements.
Subject headings
- NATURVETENSKAP -- Biologi -- Genetik (hsv//swe)
- NATURAL SCIENCES -- Biological Sciences -- Genetics (hsv//eng)
- NATURVETENSKAP -- Biologi (hsv//swe)
- NATURAL SCIENCES -- Biological Sciences (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Nazaryan-Peterse ...
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Eisfeldt, Jesper
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Pettersson, Mari ...
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Lundin, Johanna
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Nilsson, Daniel
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Wincent, Josephi ...
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Lieden, Agne
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Lovmar, Lovisa
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Ottosson, Jesper
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Gacic, Jelena, 1 ...
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Makitie, Outi
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Nordgren, Ann
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Vezzi, Francesco
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Wirta, Valtteri
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Käller, Max
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Hjortshoj, Tina ...
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Jespersgaard, Ca ...
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Houssari, Rayan
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Pignata, Laura
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Bak, Mads
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Tommerup, Niels
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Lundberg, Elisab ...
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Tumer, Zeynep
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Lindstrand, Anna
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- About the subject
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- NATURAL SCIENCES
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NATURAL SCIENCES
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and Biological Scien ...
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and Genetics
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- NATURAL SCIENCES
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NATURAL SCIENCES
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and Biological Scien ...
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
- Articles in the publication
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PLOS Genetics
- By the university
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Royal Institute of Technology
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Stockholm University
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Karolinska Institutet
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Linköping University