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  Multisite de novo mutations in human offspring after paternal exposure to ionizing radiation

Holtgrewe, M., Knaus, A., Hildebrand, G., Pantel, J.-T., de los Santos, M. R., Neveling, K., et al. (2018). Multisite de novo mutations in human offspring after paternal exposure to ionizing radiation. Scientific Reports, 8(1): 14611. doi:10.1038/s41598-018-33066-x.

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Item Permalink: http://hdl.handle.net/21.11116/0000-0003-6114-9 Version Permalink: http://hdl.handle.net/21.11116/0000-0003-6115-8
Genre: Journal Article

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Holtgrewe, Manuel , Author
Knaus, Alexej , Author
Hildebrand, Gabriele , Author
Pantel, Jean-Tori , Author
de los Santos, Miguel Rodriguez, Author
Neveling, Kornelia, Author
Goldmann, Jakob , Author
Schubach, Max , Author
Jäger, Marten , Author
Coutelier, Marie , Author
Mundlos, Stefan1, 2, Author              
Beule, Dieter, Author
Sperling, Karl, Author
Krawitz, Peter Michael , Author
Affiliations:
1Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433557              
2Charité - Universitätsmedizin Berlin, Institute of Medical and Human Genetics, 13353, Berlin, Germany, ou_persistent22              

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 Abstract: A genome-wide evaluation of the effects of ionizing radiation on mutation induction in the mouse germline has identified multisite de novo mutations (MSDNs) as marker for previous exposure. Here we present the results of a small pilot study of whole genome sequencing in offspring of soldiers who served in radar units on weapon systems that were emitting high-frequency radiation. We found cases of exceptionally high MSDN rates as well as an increased mean in our cohort: While a MSDN mutation is detected in average in 1 out of 5 offspring of unexposed controls, we observed 12 MSDNs in altogether 18 offspring, including a family with 6 MSDNs in 3 offspring. Moreover, we found two translocations, also resulting from neighboring mutations. Our findings indicate that MSDNs might be suited in principle for the assessment of DNA damage from ionizing radiation also in humans. However, as exact person-related dose values in risk groups are usually not available, the interpretation of MSDNs in single families would benefit from larger molecular epidemiologic studies on this new biomarker.

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Language(s): eng - English
 Dates: 2018-09-122018-10-02
 Publication Status: Published online
 Pages: -
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 Rev. Method: -
 Identifiers: DOI: 10.1038/s41598-018-33066-x
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Title: Scientific Reports
  Abbreviation : Sci. Rep.
Source Genre: Journal
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Publ. Info: London, UK : Nature Publishing Group
Pages: - Volume / Issue: 8 (1) Sequence Number: 14611 Start / End Page: - Identifier: ISSN: 2045-2322
CoNE: https://pure.mpg.de/cone/journals/resource/2045-2322