ArticleClinical epigenetics2019
High-resolution analysis of germ cells from men with sex chromosomal aneuploidies reveals normal transcriptome but impaired imprinting.
Article in Clinical epigenetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 1 of them a synthesis that pooled it.
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Who cites it
29 citing papers in PubMed, 1 synthesis or guideline pooled it, 52 citations in OpenAlex.
- Sex chromosome aneuploidy impacts on human gene expression and regulation: a systematic review.Molecular medicine (Cambridge, Mass.) · 2025Pooled it
- Endothelial PDGF Signaling Dysregulation Impairs Testicular Interstitial Homeostasis in Diabetes.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Epigenetic regulation by DNA methylation, histone modifications and chromatin remodeling complexes in controlling spermatogenesis and their dysfunction with male infertility.Cellular and molecular life sciences : CMLS · 2025Review
- Aging-TCA: a cross-species single-cell transcriptomic atlas for studying testicular aging.BMC genomics · 2025Article
- Impact of excess sugar on the whole genome DNA methylation pattern in human sperm.Epigenomics · 2025Article
- Article
- Single-cell RNA sequencing technology in human spermatogenesis: Progresses and perspectives.Molecular and cellular biochemistry · 2024Review
- X‑chromosome loss rescues Sertoli cell maturation and spermatogenesis in Klinefelter syndrome.Cell death & disease · 2024Article
- Adult Human, but Not Rodent, Spermatogonial Stem Cells Retain States with a Foetal-like Signature.Cells · 2024Article
- Molecular mechanisms of cellular dysfunction in testes from men with non-obstructive azoospermia.Nature reviews. Urology · 2024Review
- Understanding testicular single cell transcriptional atlas: from developmental complications to male infertility.Frontiers in endocrinology · 2024Review
- The testicular microvasculature in Klinefelter syndrome is immature with compromised integrity and characterized by excessive inflammatory cross-talk.Human reproduction (Oxford, England) · 2023Article
- Article
- The multi-omic landscape of sex chromosome abnormalities: current status and future directions.Endocrine connections · 2023Review
- Review
- New developments and future trajectories in supernumerary sex chromosome abnormalities: a summary of the 2022 3rd International Workshop on Klinefelter Syndrome, Trisomy X, and XYY.Endocrine connections · 2023Review
- Human spermatogonial stem cells and their niche in male (in)fertility: novel concepts from single-cell RNA-sequencing.Human reproduction (Oxford, England) · 2023Review
- Application of single-cell RNA sequencing on human testicular samples: a comprehensive review.International journal of biological sciences · 2023Review
- Transcriptomic differences between fibrotic and non-fibrotic testicular tissue reveal possible key players in Klinefelter syndrome-related testicular fibrosis.Scientific reports · 2022Article
- KIF2C affects sperm cell differentiation in patients with Klinefelter syndrome, as revealed by RNA-Seq and scRNA-Seq data.FEBS open bio · 2022Article
Corrections and comments
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Authors and funding
11 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe most common sex chromosomal aneuploidy in males is Klinefelter syndrome, which is characterized by at least one supernumerary X chromosome. While these men have long been considered infertile, focal spermatogenesis can be observed in some patients, and sperm can be surgically retrieved and used for artificial reproductive techniques. Although these gametes can be used for fertility treatments, little is known about the molecular biology of the germline in Klinefelter men. Specifically, it is unclear if germ cells in Klinefelter syndrome correctly establish the androgenetic DNA methylation profile and transcriptome. This is due to the low number of germ cells in the Klinefelter testes available for analysis.
resultsHere, we overcame these difficulties and successfully investigated the epigenetic and transcriptional profiles of germ cells in Klinefelter patients employing deep bisulfite sequencing and single-cell RNA sequencing. On the transcriptional level, the germ cells from Klinefelter men clustered together with the differentiation stages of normal spermatogenesis. Klinefelter germ cells showed a normal DNA methylation profile of selected germ cell-specific markers compared with spermatogonia and sperm from men with normal spermatogenesis. However, germ cells from Klinefelter patients showed variations in the DNA methylation of imprinted regions.
conclusionsThese data indicate that Klinefelter germ cells have a normal transcriptome but might present aberrant imprinting, showing impairment in germ cell development that goes beyond mere germ cell loss.
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