Pr/set domain 15

{{short description|Protein-coding gene in humans}}

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{{Infobox_gene}}

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

{{cite web

| title = Entrez Gene: PR/SET domain 15

| url = https://www.ncbi.nlm.nih.gov/gene/63977

| accessdate = 2018-07-24

}}

PRDM15 safeguards naive pluripotency by transcriptionally regulating WNT and MAPK-ERK signaling.{{cite journal | vauthors = 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 | title = PRDM15 safeguards naive pluripotency by transcriptionally regulating WNT and MAPK-ERK signaling | journal = Nature Genetics | volume = 49 | issue = 9 | pages = 1354–1363 | date = September 2017 | pmid = 28740264 | doi = 10.1038/ng.3922 | s2cid = 205355109 }}

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.{{cite journal

|title=PRDM15 loss of function links NOTCH and WNT/PCP signaling to patterning defects in holoprosencephaly

|date=2020 |doi=10.1126/sciadv.aax9852|doi-access=free|pmc=6954057 |last1=Mzoughi |first1=Slim |last2=Di Tullio |first2=Federico |last3=Low |first3=Diana H. P. |last4=Motofeanu |first4=Corina-Mihaela |last5=Ong |first5=Sheena L. M. |last6=Wollmann |first6=Heike |last7=Wun |first7=Cheng Mun |last8=Kruszka |first8=Paul |last9=Muenke |first9=Maximilian |last10=Hildebrandt |first10=Friedhelm |last11=Dunn |first11=N. Ray |last12=Messerschmidt |first12=Daniel M. |last13=Guccione |first13=Ernesto |journal=Science Advances |volume=6 |issue=2 |pages=eaax9852 |pmid=31950080 |bibcode=2020SciA....6.9852M }}