DPPA4 Human

Developmental Pluripotency Associated 4 (DPPA4) is a protein-coding gene that plays a crucial role in maintaining the pluripotency of stem cells. It is one of the core pluripotency genes, although its molecular and cellular functions are not yet fully understood . DPPA4 is associated with various pathways, including RNA Polymerase I Promoter Opening and the transcriptional regulation of pluripotent stem cells .

DPPA4 was identified as a key factor in the maintenance of pluripotency in embryonic stem cells. It is particularly significant in the context of developmental biology and regenerative medicine due to its role in maintaining the undifferentiated state of stem cells . The protein is also implicated in various diseases, including prostate cancer and astigmatism .

Recent studies have shed light on the molecular functions of DPPA4. It has been found to interact with ERBB3-binding protein 1 (EBP1), a growth factor signaling mediator. This interaction is crucial for the transcriptional regulation of pluripotent cells. DPPA4 preferentially binds to the p48 isoform of EBP1 in pluripotent cells, and this interaction is reduced upon differentiation . The interaction between DPPA4 and EBP1 is mediated by the highly conserved SAF-A/B, Acinus, and PIAS (SAP) domain .

DPPA4 is also involved in epigenetic regulation. Genome-wide DNA methylation analysis has shown that the regulatory region of DPPA4 is hypomethylated in early alcohol-exposed placentas . This hypomethylation is associated with altered regulation of DPPA2, a closely linked heterodimer of DPPA4 . These findings suggest that DPPA4 plays a role in the epigenetic changes induced by prenatal alcohol exposure, which can lead to developmental disorders .