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Whole-Genome Sequen...
Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation
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- Nilsson, D. (author)
- Karolinska Institutet
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- Pettersson, M. (author)
- Karolinska Institutet
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- Gustavsson, P. (author)
- Karolinska Institutet
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Förster, A. (author)
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- Hofmeister, W. (author)
- Karolinska Institutet
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- Wincent, J. (author)
- Karolinska Institutet
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- Zachariadis, V. (author)
- Karolinska Institutet
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- Anderlid, B. -M (author)
- Karolinska Institutet
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- Nordgren, A. (author)
- Karolinska Institutet
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- Mäkitie, O. (author)
- Karolinska Institutet
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- Wirta, Valtteri (author)
- Karolinska Institutet,KTH,Genteknologi,Science for Life Laboratory, SciLifeLab
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- Käller, Max (author)
- KTH,Genteknologi,Science for Life Laboratory, SciLifeLab
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- Vezzi, Francesco (author)
- Stockholms universitet,Science for Life Laboratory (SciLifeLab),Institutionen för biokemi och biofysik
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Lupski, J. R. (author)
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- Nordenskjöld, M. (author)
- Karolinska Institutet
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- Syk Lundberg, E. (author)
- Karolinska Institutet
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Carvalho, C. M. B. (author)
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- Lindstrand, A. (author)
- Karolinska Institutet
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(creator_code:org_t)
- 2016-12-05
- 2017
- English.
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In: Human Mutation. - : John Wiley & Sons. - 1059-7794 .- 1098-1004. ; 38:2, s. 180-192
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Abstract
Subject headings
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- Most balanced translocations are thought to result mechanistically from nonhomologous end joining or, in rare cases of recurrent events, by nonallelic homologous recombination. Here, we use low-coverage mate pair whole-genome sequencing to fine map rearrangement breakpoint junctions in both phenotypically normal and affected translocation carriers. In total, 46 junctions from 22 carriers of balanced translocations were characterized. Genes were disrupted in 48% of the breakpoints; recessive genes in four normal carriers and known dominant intellectual disability genes in three affected carriers. Finally, seven candidate disease genes were disrupted in five carriers with neurocognitive disabilities (SVOPL, SUSD1, TOX, NCALD, SLC4A10) and one XX-male carrier with Tourette syndrome (LYPD6, GPC5). Breakpoint junction analyses revealed microhomology and small templated insertions in a substantive fraction of the analyzed translocations (17.4%; n = 4); an observation that was substantiated by reanalysis of 37 previously published translocation junctions. Microhomology associated with templated insertions is a characteristic seen in the breakpoint junctions of rearrangements mediated by error-prone replication-based repair mechanisms. Our data implicate that a mechanism involving template switching might contribute to the formation of at least 15% of the interchromosomal translocation events.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinsk bioteknologi -- Medicinsk bioteknologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Medical Biotechnology -- Medical Biotechnology (hsv//eng)
- NATURVETENSKAP -- Biologi (hsv//swe)
- NATURAL SCIENCES -- Biological Sciences (hsv//eng)
Keyword
- balanced chromosomal aberration
- microhomology
- nonhomologous end joining
- reciprocal translocation
- replication-based repair mechanisms
- whole-genome sequencing
Publication and Content Type
- ref (subject category)
- art (subject category)
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To the university's database
- By the author/editor
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Nilsson, D.
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Pettersson, M.
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Gustavsson, P.
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Förster, A.
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Hofmeister, W.
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Wincent, J.
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show more...
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Zachariadis, V.
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Anderlid, B. -M
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Nordgren, A.
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Mäkitie, O.
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Wirta, Valtteri
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Käller, Max
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Vezzi, Francesco
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Lupski, J. R.
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Nordenskjöld, M.
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Syk Lundberg, E.
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Carvalho, C. M. ...
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Lindstrand, A.
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Medical Biotechn ...
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and Medical Biotechn ...
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- NATURAL SCIENCES
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NATURAL SCIENCES
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and Biological Scien ...
- Articles in the publication
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Human Mutation
- By the university
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Royal Institute of Technology
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Stockholm University
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Karolinska Institutet