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

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Item Type:Article
Title:Multisite de novo mutations in human offspring after paternal exposure to ionizing radiation
Creators Name:Holtgrewe, M. and Knaus, A. and Hildebrand, G. and Pantel, J.T. and de Los Santos, M.R. and Neveling, K. and Goldmann, J. and Schubach, M. and Jäger, M. and Coutelier, M. and Mundlos, S. and Beule, D. and Sperling, K. and Krawitz, P.M.
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.
Keywords:Base Sequence, Cohort Studies, Computational Biology, Germ-Line Mutation, Human Genome, Ionizing Radiation, Military Personnel, Mutation Rate, Paternal Exposure, Pilot Projects, Risk Factors, Whole Genome Sequencing, Animals, Mice
Source:Scientific Reports
ISSN:2045-2322
Publisher:Nature Publishing Group (U.K.)
Volume:8
Number:1
Page Range:14611
Date:2 October 2018
Official Publication:https://doi.org/10.1038/s41598-018-33066-x
PubMed:View item in PubMed

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