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. 2021 Jul 13;23(12):2309–2315. doi: 10.1038/s41436-021-01266-y

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© The Author(s) 2021

Open Access This 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 license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license 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 license, visit http://creativecommons.org/licenses/by/4.0/.

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Fig. 2 — (a) Chromatograms of the two heterozygous variants in ANKRD31. (b) The variants were highly conserved among species. (c) ANKRD31 c.985C>T (p.Gln329*) localized in exon 7, before conserved region 5 (CR5), which was responsible for interaction with REC114. Splice site variant c.1565-2A>G localized at the donor splice site of intron 10. (d) Coimmunoprecipitation (Co-IP) analysis showed ANKRD31 p.Gln329* generated a truncated protein and impaired ANKRD31–REC114 interaction. (e) After 48 hours of transfection in two human cell lines (HEK293T and MCF-7 cell), agarose gel electrophoresis showed two belts of c.1565-2A>G transcripts in contrast with wild type. (f) Sequence analysis demonstrated that c.1565-2A>G variant caused two transcripts: belt b lacked exon 11 while contained 16 bp of intro11 and intron B; belt c skipped exon 11.