ArticleNature structural & molecular biology2025
Maternal ELL3 loss-of-function leads to oocyte aneuploidy and early miscarriage.
Article in Nature structural & molecular biology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
What it found
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Who cites it
6 citing papers in PubMed.
- The mechanisms of DEPDC7-mediated actin cap establishment and meiosis progression in oocytes.EMBO reports · 2026Article
- Current gene panels for female infertility: gaps between evidence and clinical application.Journal of assisted reproduction and genetics · 2026Review
- Zfhx3 is required for proper spindle assembly and chromosome segregation during oocyte meiosis I in mice.Frontiers in cell and developmental biology · 2026Article
- [Stem cell therapy for premature ovarian insufficiency: a review of clinical evidence and therapeutic strategies].Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences · 2025Review
- The cohesin-associated protein Pds5A governs the meiotic spindle assembly via deubiquitination of Kif5B in oocytes.Science advances · 2025Article
- Identification of a novel TLE6 mutation linked to embryonic arrest and limited rescue by mRNA supplementation.Frontiers in medicine · 2025Article
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Authors and funding
39 authors.
Funding
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Abstract
Up to an estimated 10% of women experience miscarriage in their lifetimes. Embryonic aneuploidy is a leading cause for miscarriage, infertility and congenital defects. Here we identify variants of ELL3, a gene encoding a transcription elongation factor, in couples who experienced consecutive early miscarriages due to embryonic aneuploidy. Maternal ELL3 knockout leads to mouse oocyte aneuploidy, subfertility and miscellaneous embryonic defects. Mechanistically, we find that ELL3 localizes to the spindle during meiosis, and that ELL3 depletion in both mouse and human oocytes increases the incidence of meiotic spindle abnormality. ELL3 coordinates with TPX2 to ensure the proper function of the microtubule motor KIF11. Live imaging analysis shows that ELL3 is paramount for promoting spindle assembly and driving chromosome movement. Together, our findings implicate maternal ELL3 deficiency in causing oocyte aneuploidy and early miscarriage.
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Registered trials
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