POU5F1 contains a POU homeodomain, which allows it to bind to specific DNA sequences and regulate the expression of target genes . It forms a trimeric complex with other transcription factors such as SOX2 or SOX15 on DNA, controlling the expression of genes involved in early embryonic development, including YES1, FGF4, UTF1, and ZFP206 .
POU5F1 is essential for the maintenance of pluripotency in embryonic stem cells (ESCs) and germline cells . It was first identified in mice as an ESC-specific and germline-specific transcription factor . The protein’s ability to maintain pluripotency makes it a key player in early embryonic development, ensuring that cells retain the potential to differentiate into various cell types.
Aberrant expression of POU5F1 in adult tissues is associated with tumorigenesis . For instance, it can participate in a translocation with the Ewing’s sarcoma gene on chromosome 21, leading to tumor formation . Additionally, diseases such as Embryonal Carcinoma and Premature Ovarian Failure 5 have been linked to mutations or dysregulation of the POU5F1 gene .
Human recombinant POU5F1 is produced using recombinant DNA technology, which involves inserting the human POU5F1 gene into a suitable expression system, such as bacteria or yeast, to produce the protein in large quantities. This recombinant protein is used in various research applications, including studies on stem cell biology, cancer research, and developmental biology.