PR/SET domain 15 is a protein that in humans is encoded by the PRDM15 gene.[1]

PRDM15 safeguards naive pluripotency by transcriptionally regulating WNT and MAPK-ERK signaling.[2]

PRDM15 modulates WNT and MAPK/ERK signaling by directly promoting the expression of Rspo1 (R-spondin1) and Spry1 (Sprouty1). 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.[3]

See also

References

  1. ^ "Entrez Gene: PR/SET domain 15". Retrieved 2018-07-24.
  2. ^ Mzoughi S, Zhang J, Hequet D, Teo SX, Fang H, Xing QR, Bezzi M, Seah MK, Ong SL, Shin EM, Wollmann H, Wong ES, Al-Haddawi M, Stewart CL, Tergaonkar V, Loh YH, Dunn NR, Messerschmidt DM, Guccione E (September 2017). "PRDM15 safeguards naive pluripotency by transcriptionally regulating WNT and MAPK-ERK signaling". Nature Genetics. 49 (9): 1354–1363. doi:10.1038/ng.3922. PMID 28740264. S2CID 205355109
  3. ^ Mzoughi, Slim; Di Tullio, Federico; Low, Diana H. P.; Motofeanu, Corina-Mihaela; Ong, Sheena L. M.; Wollmann, Heike; Wun, Cheng Mun; Kruszka, Paul; Muenke, Maximilian; Hildebrandt, Friedhelm; Dunn, N. Ray; Messerschmidt, Daniel M.; Guccione, Ernesto (2020). "PRDM15 loss of function links NOTCH and WNT/PCP signaling to patterning defects in holoprosencephaly". Science Advances. 6 (2). Bibcode:2020SciA....6.9852M. doi:10.1126/sciadv.aax9852. PMC 6954057. PMID 31950080