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Pr/set domain 15

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PRDM15
Identifiers
AliasesPRDM15, C21orf83, PFM15, ZNF298, PR domain 15, PR/SET domain 15
External IDsOMIM: 617692; MGI: 1930121; HomoloGene: 56941; GeneCards: PRDM15; OMA:PRDM15 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001040424
NM_001282934
NM_022115

NM_144789
NM_001359077
NM_001359078

RefSeq (protein)

NP_001035514
NP_001269863
NP_071398

Location (UCSC)Chr 21: 41.8 – 41.88 MbChr 16: 97.59 – 97.65 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

PR/SET domain 15 is a protein that in humans is encoded by the PRDM15 gene.[5]

PRDM15 safeguards naive pluripotency by transcriptionally regulating WNT and MAPK-ERK signaling.[6]

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.[7]

See also

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References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000141956Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000014039Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "Entrez Gene: PR/SET domain 15". Retrieved 2018-07-24.
  6. ^ Mzoughi S, Zhang J, Hequet D, Teo SX, Fang H, Xing QR, et al. (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.
  7. ^ Mzoughi S, Di Tullio F, Low DH, Motofeanu CM, Ong SL, Wollmann H, et al. (2020). "PRDM15 loss of function links NOTCH and WNT/PCP signaling to patterning defects in holoprosencephaly". Science Advances. 6 (2): eaax9852. Bibcode:2020SciA....6.9852M. doi:10.1126/sciadv.aax9852. PMC 6954057. PMID 31950080.