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. 2024 May 16;111(6):1125–1139. doi: 10.1016/j.ajhg.2024.04.017

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© 2024 The Author(s)

This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).

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Hypomethylated regions in the spermatids/sperm methylomes mark spermatid-specific genes

(A) Single-cell expression¹⁶ of hypomethylated DMR-associated genes with specific expression in spermatids and hypermethylated DMR-associated genes with specific expression in undifferentiated spermatogonia of the undifferentiated spermatogonia vs. 1C DMRs.

(B) Example of the DMR methylation within the AGPAT3 locus that is hypermethylated in Undiff and Diff and hypomethylated in 4C and 1C and specifically expressed in SPD. H3K36me3 histone modification data (GSE40195) in human sperm is also shown. Undiff, undifferentiated spermatogonia; Diff, differentiating spermatogonia; 4C, primary spermatocytes; 1C, spermatids/sperm; SPC, spermatocytes; SPD, spermatids. See also Figure S3.