Article
An Nlrp5-null mutation leads to attenuated de novo methylation in oocytes, accompanied by a significant reduction in DNMT3L.
Molecular human reproduction - 2 Oct 2025
Nic Aodha Leah, Pokhilko Alexandra, Rosen Leah U, Galatidou Styliani, Walewska Edyta, Belton Christian, Galvao Antonio, Okkenhaug Hanneke, Yu Lu, Nakhuda Asif, Mansfield Bill, Khan Soumen, Oxley David, Barragán Montserrat, Kelsey Gavin
Abstract excerpt
Nlrp5 encodes a core component of the subcortical maternal complex (SCMC), a cytoplasmic protein structure unique to the mammalian oocyte and cleavage-stage embryo. NLRP5 mutations have been identified in patients presenting with early embryo arrest, recurrent molar pregnancies, and imprinting disorders. Correct patterning of DNA methylation over imprinted domains during oogenesis is necessary for faithful...
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