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. 2023 Aug 3;13:12584. doi: 10.1038/s41598-023-38272-w

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© The Author(s) 2023

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 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/.

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Four novel POU4F3 variants within the functional DNA-binding domains. Two (p.Ala189SerfsTer26 in SB218 and p.Leu248Pro in SB307) were located in the POU-specific domain, while the remaining two (p.Phe293Leu in SB438 and p.Val318Met in SB347) were in the POU-homeodomain. Conservation of the affected residues among species was documented for all POU4F3 variants identified in the study.