ArticleGenome research2025
An iPSC-based model of 47,XYY Jacobs syndrome reveals a DNA methylation-independent transcriptional dysregulation shared with male X aneuploid cells.
Article in Genome research, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers, 1 of them a synthesis that pooled it.
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Who cites it
3 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Sex chromosome aneuploidy impacts on human gene expression and regulation: a systematic review.Molecular medicine (Cambridge, Mass.) · 2025Pooled it
- Cell-type specific allelic dampening of sex-linked genes in sex chromosome aneuploidy.bioRxiv : the preprint server for biology · 2026Article
- Neuropsychiatric Phenotype and Treatment Challenges in 47,XYY Syndrome: A Narrative Review with a Case Series of Adolescents.Brain sciences · 2026Review
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Authors and funding
9 authors.
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Abstract
Jacobs (JS) and Klinefelter (KS) syndromes, carrying 47,XYY and 47,XXY chromosomes, respectively, are the most prevalent sex-chromosome aneuploidies in males. JS and KS patients share several clinical features, including sterility, hormonal deficits, neurocognitive delay, and skeletal-muscle defects, although the penetrance of these traits in the two syndromes varies. Despite the high incidence, the molecular mechanisms underlying the clinical manifestations in sex aneuploid male patients are still elusive. In this study, we characterize the inaugural cohort of 47,XYY human induced pluripotent stem cells (iPSCs). We perform a comprehensive transcriptional analysis, including 47,XYY and 46,XY primary fibroblasts, iPSCs, and neural stem cells (NSCs), alongside a comparative analysis of 47,XYY and 47,XXY fibroblasts and iPSC transcriptomes. We reveal a transcriptional feedback mechanism tuning non-PAR X Chromosome gene (NPX) homologs in Y supernumerary cells, a phenomenon not detected in X aneuploid male iPSCs. By ectopically modulating the expression of selected NPY genes, we demonstrate a transcriptional link between the
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