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. 2021 Mar 12;16:129. doi: 10.1186/s13023-021-01760-1

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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. 4 — Requirements for DUX4 gene expression. DUX4 expression is only possible at the most distal D4Z4 repeat of the 4qA alleles. Exon 3, which is located outside the D4Z4 repeats in the pLAM1 region is carrying the variant ATTAAA that provides a PAS enabling the expression of the most distal copy of the DUX4 gene into DUX4 mRNA and then DUX4 protein [39]. Whilst healthy individuals especially generate the non-toxic splice form of DUX4-S (encodes the amino-terminal part and both homeodomains; does not contain the C-terminal domain) [73], FSHD muscle produces toxic DUX4-FL mRNA [32]