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. 2021 May 21;13:90. doi: 10.1186/s13073-021-00900-3

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© The Author(s) 2021

Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.

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Fig. 6 — Analyses of the nature of missense variants within the helicase core motifs (HCM). a RNA unwinding activity of purified DHX30 R493H, H562R, and R785C mutants was analyzed upon addition of DHX30 WT protein. Increasing amounts of mutant proteins were incubated with 20 ng of WT protein and assayed for their ability to unwind a radiolabeled RNA duplex in the presence of ATP. b Assessment of embryonic development after co-injection of DHX30 R493H and R785C with DHX30 WT cDNA in a zebrafish model. Bar graph indicating the percentage of cmcl2-GFP positive zebrafish embryos 4–7 days postfertilization (dpf). The presented data are derived from three independent studies. The total number of embryos assessed are 58, 43, and 51 for WT, R493H+WT, and R785C+WT, respectively. ****: significantly different from WT (****p< 0.0001; χ² test)