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Cytogenetically vis...
Cytogenetically visible inversions are formed by multiple molecular mechanisms
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- Pettersson, Maria (author)
- Karolinska Institutet,Karolinska Inst, Sweden; Karolinska Univ Hosp, Sweden
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- Grochowski, Christopher M. (author)
- Baylor Coll Med, TX 77030 USA
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- Wincent, Josephine (author)
- Karolinska Institutet,Karolinska Inst, Sweden; Karolinska Univ Hosp, Sweden
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- Eisfeldt, Jesper (author)
- Karolinska Institutet,Karolinska Inst, Sweden; Karolinska Inst, Sweden
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- Breman, Amy M. (author)
- Indiana Univ, IN USA
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- Cheung, Sau W. (author)
- Baylor Coll Med, TX 77030 USA
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- Krepischi, Ana C. V. (author)
- Univ Sao Paulo, Brazil
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- Rosenberg, Carla (author)
- Univ Sao Paulo, Brazil
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- Lupski, James R. (author)
- Baylor Coll Med, TX 77030 USA; Baylor Coll Med, TX 77030 USA; Texas Childrens Hosp, TX 77030 USA
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- Ottosson, Jesper (author)
- Sahlgrens Univ Hosp, Sweden
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- Lovmar, Lovisa (author)
- Sahlgrens Univ Hosp, Sweden
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- Gacic, Jelena (author)
- Linköpings universitet,Avdelningen för cellbiologi,Medicinska fakulteten,Region Östergötland, Klinisk genetik
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- Lundberg, Elisabeth S. (author)
- Karolinska Inst, Sweden; Karolinska Univ Hosp, Sweden
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- Nilsson, Daniel (author)
- Karolinska Institutet,Karolinska Inst, Sweden; Karolinska Univ Hosp, Sweden; Karolinska Inst, Sweden
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- Carvalho, Claudia M. B. (author)
- Baylor Coll Med, TX 77030 USA; Pacific Northwest Res Inst, WA USA
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- Lindstrand, Anna (author)
- Karolinska Institutet,Karolinska Inst, Sweden; Karolinska Univ Hosp, Sweden
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(creator_code:org_t)
- 2020-10
- 2020
- English.
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In: Human Mutation. - : WILEY. - 1059-7794 .- 1098-1004. ; 41:11, s. 1979-1998
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Abstract
Subject headings
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- Cytogenetically detected inversions are generally assumed to be copy number and phenotypically neutral events. While nonallelic homologous recombination is thought to play a major role, recent data suggest the involvement of other molecular mechanisms in inversion formation. Using a combination of short-read whole-genome sequencing (WGS), 10X Genomics Chromium WGS, droplet digital polymerase chain reaction and array comparative genomic hybridization we investigated the genomic structure of 18 large unique cytogenetically detected chromosomal inversions and achieved nucleotide resolution of at least one chromosomal inversion junction for 13/18 (72%). Surprisingly, we observed that seemingly copy number neutral inversions can be accompanied by a copy-number gain of up to 350 kb and local genomic complexities (3/18, 17%). In the resolved inversions, the mutational signatures are consistent with nonhomologous end-joining (8/13, 62%) or microhomology-mediated break-induced replication (5/13, 38%). Our study indicates that short-read 30x coverage WGS can detect a substantial fraction of chromosomal inversions. Moreover, replication-based mechanisms are responsible for approximately 38% of those events leading to a significant proportion of inversions that are actually accompanied by additional copy-number variation potentially contributing to the overall phenotypic presentation of those patients.
Subject headings
- NATURVETENSKAP -- Biologi -- Genetik (hsv//swe)
- NATURAL SCIENCES -- Biological Sciences -- Genetics (hsv//eng)
Keyword
- chromosomal inversions; nonallelic homologous recombination; nonhomologous end-joining; recombinant chromosomes; replication-based repair mechanisms; whole-genome sequencing
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Pettersson, Mari ...
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Grochowski, Chri ...
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Wincent, Josephi ...
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Eisfeldt, Jesper
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Breman, Amy M.
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Cheung, Sau W.
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show more...
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Krepischi, Ana C ...
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Rosenberg, Carla
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Lupski, James R.
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Ottosson, Jesper
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Lovmar, Lovisa
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Gacic, Jelena
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Lundberg, Elisab ...
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Nilsson, Daniel
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Carvalho, Claudi ...
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Lindstrand, Anna
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show less...
- 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
- Articles in the publication
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Human Mutation
- By the university
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Linköping University
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Karolinska Institutet