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. 2024 Mar 30;15:2796. doi: 10.1038/s41467-024-47162-2

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© The Author(s) 2024

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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Fig. 1 — a A sequence fragment spanning 80 kilobases (GRC38h38.p13-chrY: 2786855-2867268) from SRY to RPSY4. The intergenic region is predominantly formed of highly repetitive elements. b Zoomed-in view of a subregion from a covering the sequence from SRY to the beginning of the repetitive elements (GRC38h38.p13-chrY:2,786,855- 2,794,240). E800 corresponds to the region sequenced in 46,XY individuals with unexplained gonadal dysgenesis described in Fig. 3. E250 corresponds to the 250 bp fragment used for the luciferase assay described in Fig. 4E. The light blue, dark blue, and red triangles represent consensus binding sites for GATA4, WT1, and NR5A1, respectively. Turquoise indicates repetitive sequences. Open arrows represent SRY and RNASEH2CP1, while black boxes represent the RPS4Y1 exons. The transcription Start Site (TSS) of SRY is indicated by an arrow. c Consensus binding sites for GATA4, WT1, and NR5A1 predicted by Matinspector (from the Genomatix suite).