SOX2 Human

The SRY (Sex Determining Region Y)-Box 2, commonly referred to as SOX2, is a transcription factor that plays a crucial role in the regulation of embryonic development and the determination of cell fate. It is part of the SOX (SRY-related HMG-box) family of transcription factors, which are characterized by the presence of a conserved HMG (high mobility group) box domain that binds to DNA.

The SRY gene, located on the Y chromosome, was first identified as the key determinant of male sex development in mammals. The discovery of the SRY gene was a significant milestone in understanding the genetic mechanisms of sex determination. The SRY gene encodes a protein that acts as a transcription factor, initiating the development of male characteristics by promoting the formation of testes .

SOX2, on the other hand, is located on chromosome 3 in humans and is not directly involved in sex determination. Instead, it is essential for maintaining the pluripotency of stem cells and is involved in the regulation of genes critical for embryonic development .

SOX2 functions as a transcription factor, meaning it binds to specific DNA sequences and regulates the expression of target genes. It is particularly important in maintaining the self-renewal and pluripotency of embryonic stem cells. Pluripotency refers to the ability of a stem cell to differentiate into any cell type in the body.

The SOX2 protein interacts with other transcription factors and co-regulators to control the expression of genes involved in cell proliferation, differentiation, and survival. It plays a pivotal role in the development of the central nervous system, sensory organs, and other tissues .

Human recombinant SOX2 refers to the SOX2 protein that has been produced using recombinant DNA technology. This involves inserting the SOX2 gene into a suitable expression system, such as bacteria or mammalian cells, to produce the protein in large quantities. Recombinant SOX2 is used in various research applications, including studies on stem cell biology, developmental biology, and regenerative medicine.

SOX2 has significant implications in both clinical and research settings. Mutations or dysregulation of the SOX2 gene can lead to various developmental disorders and diseases. For example, SOX2 mutations have been associated with conditions such as anophthalmia (absence of one or both eyes), microphthalmia (abnormally small eyes), and other congenital anomalies .

In research, SOX2 is a key factor in the generation of induced pluripotent stem cells (iPSCs). iPSCs are derived from adult cells that have been reprogrammed to a pluripotent state by introducing specific transcription factors, including SOX2. These cells have the potential to differentiate into any cell type, making them valuable for studying disease mechanisms, drug screening, and regenerative therapies .