ArticleThe EMBO journal2021
Paternal USP26 mutations raise Klinefelter syndrome risk in the offspring of mice and humans.
Article in The EMBO journal, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 27 citations in OpenAlex.
- Homozygous C12orf40 variant contributes to severe oligoasthenoteratozoospermia and sperm sex chromosome aneuploidy.Journal of assisted reproduction and genetics · 2026Article
- Orchestrating homolog segregation in meiosis I: molecular logic and regulatory networks with emphasis on male metaphase I.Cell communication and signaling : CCS · 2026Review
- The Potential Role of Deubiquitinating Enzymes (DUBs) in Male Fertility.Biomolecules · 2026Review
- Rapid and Sensitive Detection ofHuman mutation · 2026Article
- Turner syndrome: fertility, familial clustering, and cancer risk.Human reproduction (Oxford, England) · 2025Article
- Global Prevalence of Infertility Attributable to Sex Chromosome Abnormalities: Insights from the Global Burden of Disease Study.International journal of women's health · 2025Article
- USP26 as a hepatitis B virus-induced deubiquitinase primes hepatocellular carcinogenesis by epigenetic remodeling.Nature communications · 2024Article
- Recent advances in mechanisms ensuring the pairing, synapsis and segregation of XY chromosomes in mice and humans.Cellular and molecular life sciences : CMLS · 2024Review
- A transcriptomic signature of X chromosome overdosage in Saudi Klinefelter syndrome induced pluripotent stem cells.Endocrine connections · 2023Article
- Parental sex-dependent effects of either maternal or paternal eNOS deficiency on the offspring's phenotype without transmission of the parental eNOS deficiency to the offspring.Frontiers in physiology · 2023Article
- Paternal eNOS deficiency in mice affects glucose homeostasis and liver glycogen in male offspring without inheritance of eNOS deficiency itself.Diabetologia · 2022Article
- FISH and Chimps: Insights into Frequency and Distribution of Sperm Aneuploidy in Chimpanzees (International journal of molecular sciences · 2021Article
- USP26: a genetic risk factor for sperm X-Y aneuploidy.The EMBO journal · 2021Article
- Paternal USP26 mutations raise Klinefelter syndrome risk in the offspring of mice and humans.The EMBO journal · 2021Article
- Novel Hemizygous Mutations ofFrontiers in genetics · 2021Article
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Authors and funding
23 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Current understanding holds that Klinefelter syndrome (KS) is not inherited, but arises randomly during meiosis. Whether there is any genetic basis for the origin of KS is unknown. Here, guided by our identification of some USP26 variations apparently associated with KS, we found that knockout of Usp26 in male mice resulted in the production of 41, XXY offspring. USP26 protein is localized at the XY body, and the disruption of Usp26 causes incomplete sex chromosome pairing by destabilizing TEX11. The unpaired sex chromosomes then result in XY aneuploid spermatozoa. Consistent with our mouse results, a clinical study shows that some USP26 variations increase the proportion of XY aneuploid spermatozoa in fertile men, and we identified two families with KS offspring wherein the father of the KS patient harbored a USP26-mutated haplotype, further supporting that paternal USP26 mutation can cause KS offspring production. Thus, some KS should originate from XY spermatozoa, and paternal USP26 mutations increase the risk of producing KS offspring.
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