Pr/set domain 15


PR/SET domain 15 is a protein that in humans is encoded by the PRDM15 gene.
PRDM15 safeguards naive pluripotency by transcriptionally regulating WNT and MAPK-ERK signaling.
PRDM15 modulates WNT and MAPK/ERK signaling by directly promoting the expression of Rspo1 and Spry1. Mzoughi et al., have shown that PRDM15 binds to the promoter region of both genes, inducing changes in the local chromatin to promote their transcription. In a second report, the same team has identified a loss-of-function mutation in patients with holoprosencephaly and microcephaly. They used mouse models and embryonic stem cells to uncover an unexpected link between Notch and WNT/PCP signaling and early embryo patterning. Both pathways are deregulated in PRDM15 mutants, leading to patterning defects and a spectrum of anterior brain malformations.