Xuebiao Yao

Jan 16, 2025 | nature.com | Han Zhao |Jin Liu |Xuebiao Yao |Wei Xie |Yan Sun |Keliang Wu | +4 more

AbstractUp 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.