SOX1

SOX1 is a gene that encodes a transcription factor with a HMG-box (high mobility group) DNA-binding domain and functions primarily in neurogenesis. SOX1, SOX2 and SOX3, members of the SOX gene family (specifically the SOXB1 group), contain transcription factors related to SRY, the testis-determining factor.

SOX1
Identifiers
Aliases	SOX1, SRY-box 1, SRY-box transcription factor 1
External IDs	OMIM: 602148 MGI: 98357 HomoloGene: 133765 GeneCards: SOX1
Gene location (Human) Chr. Chromosome 13 (human)[1] Band 13q34 Start 112,067,149 bp[1] End 112,071,706 bp[1]
Gene ontology Molecular function • GO:0001131, GO:0001151, GO:0001130, GO:0001204 DNA-binding transcription factor activity • GO:0000980 RNA polymerase II cis-regulatory region sequence-specific DNA binding • DNA binding • sequence-specific DNA binding • GO:0001077, GO:0001212, GO:0001213, GO:0001211, GO:0001205 DNA-binding transcription activator activity, RNA polymerase II-specific • core promoter sequence-specific DNA binding • GO:0001948 protein binding • GO:0001200, GO:0001133, GO:0001201 DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component • cell nucleus Biological process • forebrain neuron development • ventral spinal cord interneuron specification • forebrain development • neuron migration • regulation of transcription, DNA-templated • chromatin organization • lens morphogenesis in camera-type eye • transcription from RNA polymerase II promoter • transcription, DNA-templated • positive regulation of transcription from RNA polymerase II promoter • nervous system development • forebrain neuron differentiation • cellular response to leukemia inhibitory factor • cell differentiation • central nervous system development • neuron differentiation Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	6656	20664
Ensembl	ENSG00000182968	ENSMUSG00000096014
UniProt	O00570	P53783
RefSeq (mRNA)	NM_005986	NM_009233
RefSeq (protein)	NP_005977	NP_033259
Location (UCSC)	Chr 13: 112.07 – 112.07 Mb	n/a
PubMed search	[2]	[3]
Wikidata
View/Edit Human View/Edit Mouse

SOX1 exerts its importance in its role in development of the central nervous system (neurogenesis) and in particular the development of the eye, where it is functionally redundant with SOX3 and to a lesser degree SOX2, and maintenance of neural progenitor cell identity. SOX1 expression is restricted to the neuroectoderm by proliferating progenitor cells in the tetrapod embryo.[4][5] The induction of this neuroectoderm occurs upon expression of the SOX1 gene. In ectodermal cells committed to a certain cell fate, SOX1 has shown to be one of the earliest transcription factors expressed.[6] In particular, SOX1 is first detected in the late head fold stage.[7]

Clinical significance and research

Striatum development

SOX1 is expressed particularly in the ventral striatum, and Sox1-deficient mice have altered striatum development, leading e.g. to epilepsy.[4]

Lens development

SOX1 has shown clinical significance in its direct regulation of gamma-crystallin genes, which is vital for lens development in mice. Gamma-crystallins serve as a key structural component in lens fiber cells in both mammals and amphibians. Research has shown direct deletion of the SOX1 gene in mice causes cataracts and microphthalmia. These mutant lenses fail to elongate due to the absence of gamma-crystallins.[8]

SOXB1 group redundant roles

SOX1 is a member of the SOX gene family, in particular the SOXB1 group, which includes SOX1, SOX2, and SOX3. The SOX gene family encodes transcription factors. It is suggested the three members of the SOXB1 group have redundant roles in the development of neural stem cells. This group of SOX genes regulate neural progenitor identity. Each of these proteins have unique neural markers. Overexpression of either SOX1, SOX2, or SOX 3 increases neural progenitors and prevents neural differentiation. In non-mammalian vertebrates, loss of one SOXB1 protein results in minor phenotypic differences. This supports the claim that SOXB1 group proteins have redundant roles.[9]

See also

• Neurogenesis

References

1. GRCh38: Ensembl release 89: ENSG00000182968 - Ensembl, May 2017
2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
3. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. Guth SI, Wegner M (October 2008). "Having it both ways: Sox protein function between conservation and innovation". Cell. Mol. Life Sci. 65 (19): 3000–18. doi:10.1007/s00018-008-8138-7. PMID 18516494. S2CID 8943181.
5. Nitta KR, Takahashi S, Haramoto Y, Fukuda M, Onuma Y, Asashima M (December 2006). "Expression of Sox1 during Xenopus early embryogenesis". Biochem. Biophys. Res. Commun. 351 (1): 287–93. doi:10.1016/j.bbrc.2006.10.040. PMID 17056008.
6. "A role for SOX1 in neural determination".
7. Wood, Heather B.; Episkopou, Vasso (1999). "Comparative expression of the mouse Sox1, Sox2 and Sox3 genes from pre-gastrulation to early somite stages". Mechanisms of Development. 86 (1–2): 197–201. doi:10.1016/S0925-4773(99)00116-1. PMID 10446282. S2CID 5762525.
8. "Sox1 directly regulates the γ-crystallin genes and is essential for lens development in mice".
9. Archer TC, Jin J, Casey ES (2011). "Interaction of Sox1, Sox2, Sox3 and Oct4 during primary neurogenesis". Dev. Biol. 350 (2): 429–40. doi:10.1016/j.ydbio.2010.12.013. PMC 3033231. PMID 21147085.