DPPA3

Description

The DPPA3 (developmental pluripotency associated 3) is a protein-coding gene located on chromosome 12.

DPPA3, or Developmental pluripotency-associated protein 3, is a protein encoded by the DPPA3 gene in humans. In mice, this protein is considered a maternal factor during the preimplantation stage of development, potentially involved in transcriptional repression, cell division, and maintaining cell pluripotentiality.

DPPA3, also known as Stella-related protein, is a primordial germ cell (PGC)-specific protein that plays a critical role in epigenetic chromatin reprogramming during fertilization. It is involved in protecting DNA methylation in the maternal pronucleus by preventing the conversion of 5mC to 5hmC. DPPA3 specifically binds to histone H3 dimethylated at Lys-9 (H3K9me2) on the maternal genome, thereby shielding it from TET3-mediated conversion to 5hmC and subsequent DNA demethylation. This selective protection allows for the maintenance of methylation patterns in the maternal genome. Conversely, DPPA3 does not bind to paternal chromatin due to its packaging into protamine and the absence of significant H3K9me2 marks. Additionally, DPPA3 safeguards imprinted loci marked with H3K9me2 from demethylation during early embryogenesis. DPPA3 is crucial for maintaining totipotent and pluripotent states throughout preimplantation development and also participates in chromatin condensation during oocytogenesis.

DPPA3 is also known as Pgc7, STELLA.

Associated Diseases

WES Whole Exome Sequencing