TCL1A mediates DNA methylation defects in recurrent hydatidiform mole with NLRP7 pathogenic variants - PubMed
3 days ago
- #NLRP7
- #hydatidiform mole
- #DNA methylation
- TCL1A is identified as an endogenous NLRP7-interacting partner, mediating DNA methylation defects in recurrent hydatidiform mole (RHM).
- NLRP7 pathogenic variants impair interaction with TCL1A, leading to hypomethylation at maternally methylated imprinted regions.
- The cryo-EM structure of the NLRP7-TCL1A complex reveals its fundamental architecture.
- NLRP7 may protect oocyte methylome by sequestering TCL1A in the cytoplasm, preventing DNMT3A-mediated de novo methylation suppression.
- L766R is identified as a pathogenic variant through in silico predictions and interaction analysis.
- Two patent applications related to TCL1A and VPICONE assay have been filed based on the study's findings.