Developmental Pluripotency Associated 3 (DPPA3), also known as Stella or PGC7, is a protein encoded by the DPPA3 gene. This protein plays a crucial role in early embryonic development and is specifically expressed in pre-implantation embryos, embryonic stem cells (ES cells), and primordial germ cells (PGCs) .
DPPA3 is a maternal factor that plays a significant role during the preimplantation stage of development. It is involved in transcriptional repression, cell division, and the maintenance of cell pluripotentiality . One of its primary functions is to protect the maternal genome from DNA demethylation. This is achieved by binding to histone H3 dimethylated at ‘Lys-9’ (H3K9me2) on the maternal genome, thereby preventing the conversion of 5-methylcytosine (5mC) to 5-hydroxymethylcytosine (5hmC) and subsequent DNA demethylation .
DPPA3 is crucial for the epigenetic reprogramming of chromatin in the zygote following fertilization. In zygotes, DNA demethylation occurs selectively in the paternal pronucleus before the first cell division, while the maternal pronucleus and certain paternally-imprinted loci are protected from this process . This selective protection is vital for the proper development of the embryo.
Mutations or dysregulation of the DPPA3 gene can lead to developmental abnormalities and diseases. For instance, diseases associated with DPPA3 include Epidural Spinal Canal Angiolipoma and Angiolipoma . Understanding the function and regulation of DPPA3 can provide insights into the mechanisms of early embryonic development and potential therapeutic targets for related diseases.