SOX1
Encyclopedia
SOX1 is a transcription factor
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...

 in the 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...

 protein
Protein
Proteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...

 family. SOX1 expression is restricted to neuroectoderm
Neuroectoderm
Neuroectoderm is the term for ectoderm which receives Bone Morphogenetic Protein-inhibiting signals from proteins such as noggin, which leads to the development of the nervous system from this tissue....

 in the tetrapod
Tetrapod
Tetrapods are vertebrate animals having four limbs. Amphibians, reptiles, birds and mammals are all tetrapods; even snakes and other limbless reptiles and amphibians are tetrapods by descent. The earliest tetrapods evolved from the lobe-finned fishes in the Devonian...

 embryo. SOX1 is involved in early central nervous system
Central nervous system
The central nervous system is the part of the nervous system that integrates the information that it receives from, and coordinates the activity of, all parts of the bodies of bilaterian animals—that is, all multicellular animals except sponges and radially symmetric animals such as jellyfish...

 development, where it is functionally redundant with SOX3
SOX3
Transcription factor SOX-3 is a protein that in humans is encoded by the SOX3 gene.This gene encodes a member of the SOX family of transcription factors involved in the regulation of embryonic brain development and in determination of cell fate. The encoded protein acts as a transcriptional...

 and to a lesser degree SOX2
SOX2
SRY -box 2, also known as SOX2, is a transcription factor that is essential to maintain self-renewal of undifferentiated embryonic stem cells....

, and maintenance of neural progenitor cell identity. SOX1 is expressed particularly in the ventral striatum
Ventral striatum
The ventral striatum is generally considered that part of the striatum that is connectionally associated with limbic structures, such as the amygdala, hippocampus, midline thalamus, and certain regions of the prefrontal cortex...

, and Sox1-deficient mice have altered striatum development, leading e.g. to epilepsy
Epilepsy
Epilepsy is a common chronic neurological disorder characterized by seizures. These seizures are transient signs and/or symptoms of abnormal, excessive or hypersynchronous neuronal activity in the brain.About 50 million people worldwide have epilepsy, and nearly two out of every three new cases...

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