SOX1

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]
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
	6656
	20664
	ENSG00000182968
	n/a
	O00570
	P53783
	NM_005986
	NM_009233
	NP_005977
	NP_033259
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated September 14, 2020

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 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]

Related Research Articles

Cellular differentiation is the process in which a cell changes from one cell type to another. Usually, the cell changes to a more specialized type. Differentiation occurs numerous times during the development of a multicellular organism as it changes from a simple zygote to a complex system of tissues and cell types. Differentiation continues in adulthood as adult stem cells divide and create fully differentiated daughter cells during tissue repair and during normal cell turnover. Some differentiation occurs in response to antigen exposure. Differentiation dramatically changes a cell's size, shape, membrane potential, metabolic activity, and responsiveness to signals. These changes are largely due to highly controlled modifications in gene expression and are the study of epigenetics. With a few exceptions, cellular differentiation almost never involves a change in the DNA sequence itself. Thus, different cells can have very different physical characteristics despite having the same genome.

The PAX3 gene encodes a member of the paired box or PAX family of transcription factors. The PAX family consists of nine human (PAX1-PAX9) and nine mouse (Pax1-Pax9) members arranged into four subfamilies. Human PAX3 and mouse Pax3 are present in a subfamily along with the highly homologous human PAX7 and mouse Pax7 genes. The human PAX3 gene is located in the 2q36.1 chromosomal region, and contains 10 exons within a 100 kb region.

Bone morphogenetic protein 4 is a protein that in humans is encoded by BMP4 gene. BMP4 is found on chromosome 14q22-q23

SRY -box 2, also known as SOX2, is a transcription factor that is essential for maintaining self-renewal, or pluripotency, of undifferentiated embryonic stem cells. Sox2 has a critical role in maintenance of embryonic and neural stem cells.

Protein BTG2 also known as BTG family member 2 or NGF-inducible anti-proliferative protein PC3 or NGF-inducible protein TIS21, is a protein that in humans is encoded by the BTG2 gene and in other mammals by the homologous Btg2 gene. This protein controls cell cycle progression and proneural genes expression by acting as a transcription coregulator that enhances or inhibits the activity of transcription factors.

Transcription factor HES1 is a protein that is encoded by the Hes1 gene, and is the mammalian homolog of the hairy gene in Drosophila. HES1 is one of the seven members of the Hes gene family (HES1-7). Hes genes code nuclear proteins that suppress transcription.

Transcription factor Maf also known as proto-oncogene c-Maf or V-maf musculoaponeurotic fibrosarcoma oncogene homolog is a transcription factor that in humans is encoded by the MAF gene.

Gamma-crystallin B is a protein that in humans is encoded by the CRYGB gene.

Hairy/enhancer-of-split related with YRPW motif protein 2 (HEY2) also known as cardiovascular helix-loop-helix factor 1 (CHF1) is a protein that in humans is encoded by the HEY2 gene.

Protein BTG1 is a protein that in humans is encoded by the BTG1 gene.

Protein atonal homolog 1 is a protein that in humans is encoded by the ATOH1 gene.

Transcription factor SOX-11 is a protein that in humans is encoded by the SOX11 gene.

Neurogenins are a family of bHLH transcription factors involved in specifying neuronal differentiation. It is one of many gene families related to the atonal gene in Drosophila. Other positive regulators of neuronal differentiation also expressed during early neural development include NeuroD and ASCL1.

Gamma-crystallin A is a protein that in humans is encoded by the CRYGA gene.

Transcription factor SOX-21 is a protein that in humans is encoded by the SOX21 gene. It is a member of the Sox gene family of transcription factors.

Forkhead box protein A2 (FOXA2), also known as hepatocyte nuclear factor 3-beta (HNF-3B), is a transcription factor that plays an important role during development, in mature tissues and, when dysregulated or mutated, also in cancer.

Eomesodermin also known as T-box brain protein 2 (Tbr2) is a protein that in humans is encoded by the EOMES gene.

Epigenetics is the study of heritable changes in gene expression which do not result from modifications to the sequence of DNA. Neurogenesis is the mechanism for neuron proliferation and differentiation. It entails many different complex processes which are all time and order dependent. Processes such as neuron proliferation, fate specification, differentiation, maturation, and functional integration of newborn cells into existing neuronal networks are all interconnected. In the past decade many epigenetic regulatory mechanisms have been shown to play a large role in the timing and determination of neural stem cell lineages.

Proneural genes encode transcription factors of the basic helix-loop-helix (bHLH) class which are responsible for the development of neuroectodermal progenitor cells. Proneural genes have multiple functions in neural development. They integrate positional information and contribute to the specification of progenitor-cell identity. From the same ectodermal cell types, neural or epidermal cells can develop based on interactions between proneural and neurogenic genes. Neurogenic genes are so called because loss of function mutants show an increase number of developed neural precursors. On the other hand, proneural genes mutants fail to develop neural precursor cells.

Homeobox protein CDX-4 is a protein that in humans is encoded by the CDX4 gene. This gene is a member of the caudal-related homeobox transcription factor family that also includes CDX1 and CDX2.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000182968 - Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
1 2 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.
↑ 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.
↑ "A role for SOX1 in neural determination".
↑ 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.
↑ "Sox1 directly regulates the γ-crystallin genes and is essential for lens development in mice".
↑ 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.

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[refGRCh38Ensembl-1] 1 2 3 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.

[Guth-4] 1 2 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.