SOX2
Encyclopedia
SRY-box 2, also known as SOX2, is a transcription factor
that is essential to maintain self-renewal of undifferentiated embryonic stem cell
s.
This intron
less gene encodes a member of the SRY
-related HMG
-box (SOX
) family of transcription factors involved in the regulation of embryonic development
and in the determination of cell fate. The encoded protein may act as a transcriptional activator
after forming a protein complex with other proteins. Mutations in this gene have been associated with bilateral anophthalmia
, a severe form of structural eye malformation. This gene lies within an intron of another gene called SOX2 overlapping transcript (SOX2OT
).
The ectopic expression of SOX2 may be related to abnormal differentiation of colorectal cancer
cells.
Sox2 is one of the key transcription factors required in induced pluripotent stem cell
s. As forced Oct4 expression induces pluripotency in Sox2-null cells, a group of researchers concluded that the primary role of Sox2 in induced pluripotent stem cells is controlling Oct4 expression, and they perpetuate their own expression when expressed concurrently.
Transcription factor
In molecular biology and genetics, a transcription factor is a protein that binds to specific DNA sequences, thereby controlling the flow of genetic information from DNA to mRNA...
that is essential to maintain self-renewal of undifferentiated embryonic stem cell
Stem cell
This article is about the cell type. For the medical therapy, see Stem Cell TreatmentsStem cells are biological cells found in all multicellular organisms, that can divide and differentiate into diverse specialized cell types and can self-renew to produce more stem cells...
s.
This intron
Intron
An intron is any nucleotide sequence within a gene that is removed by RNA splicing to generate the final mature RNA product of a gene. The term intron refers to both the DNA sequence within a gene, and the corresponding sequence in RNA transcripts. Sequences that are joined together in the final...
less gene encodes a member of the SRY
SRY
SRY is a sex-determining gene on the Y chromosome in the therians .This intronless gene encodes a transcription factor that is a member of the SOX gene family of DNA-binding proteins...
-related HMG
High mobility group
High-Mobility Group or HMG is a group of chromosomal proteins that help withtranscription, replication, recombination, and DNA repair.-Families:The HMG proteins are subdivided into 3 superfamilies each containing a characteristic functional domain:...
-box (SOX
SOX genes
SOX genes encode a family of transcription factors that bind to the minor groove in DNA, and belong to a super-family of genes characterized by a homologous sequence called the HMG box. This HMG box is a DNA binding domain that is highly conserved throughout eukaryotic species...
) family of transcription factors involved in the regulation of embryonic development
Embryogenesis
Embryogenesis is the process by which the embryo is formed and develops, until it develops into a fetus.Embryogenesis starts with the fertilization of the ovum by sperm. The fertilized ovum is referred to as a zygote...
and in the determination of cell fate. The encoded protein may act as a transcriptional activator
Activator (genetics)
An activator is a DNA-binding protein that regulates one or more genes by increasing the rate of transcription. The activator may increase transcription by virtue of a connected domain which assists in the formation of the RNA polymerase holoenzyme, or may operate through a coactivator. A...
after forming a protein complex with other proteins. Mutations in this gene have been associated with bilateral anophthalmia
Anophthalmia
Anophthalmia, also known as anophthalmos , is the congenital absence of one or both eyes.-Prevalence:...
, a severe form of structural eye malformation. This gene lies within an intron of another gene called SOX2 overlapping transcript (SOX2OT
SOX2OT
SOX2 overlapping transcript is a long non-coding RNA, containing at least 5 exons. The SOX2 gene, an important regulator of neurogenesis, lies within one of the introns of SOX2OT. SOX2OT and SOX2DOT are expressed in zones of neurogenesis within the brain...
).
The ectopic expression of SOX2 may be related to abnormal differentiation of colorectal cancer
Colorectal cancer
Colorectal cancer, commonly known as bowel cancer, is a cancer caused by uncontrolled cell growth , in the colon, rectum, or vermiform appendix. Colorectal cancer is clinically distinct from anal cancer, which affects the anus....
cells.
Sox2 is one of the key transcription factors required in induced pluripotent stem cell
Induced pluripotent stem cell
Induced pluripotent stem cells, commonly abbreviated as iPS cells or iPSCs are a type of pluripotent stem cell artificially derived from a non-pluripotent cell, typically an adult somatic cell, by inducing a "forced" expression of specific genes....
s. As forced Oct4 expression induces pluripotency in Sox2-null cells, a group of researchers concluded that the primary role of Sox2 in induced pluripotent stem cells is controlling Oct4 expression, and they perpetuate their own expression when expressed concurrently.
Further reading
External links
- Young Lab- Core Transcriptional Regulatory Circuitry in Human Embryonic Stem Cells
- GeneReviews/NCBI/NIH/UW entry on SOX2-related eye disorders
- Generating iPS Cells from MEFS through Forced Expression of Sox-2, Oct-4, c-Myc, and Klf4 (Journal of Visualized Experiments)
- GeneReviews/NCBI/NIH/UW entry on Anophthalmia / Microphthalmia Overview