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Gene Review

Sox1  -  SRY (sex determining region Y)-box 1

Mus musculus

Synonyms: BB176347, Sox-1, Transcription factor SOX-1
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High impact information on Sox1

  • Here we report that expression of the transcription factors Sox1, Sox2 and Sox3 (Sox1-3) is a critical determinant of neurogenesis [1].
  • During fetal development, Sox1 is expressed by proliferating progenitor cells throughout the central nervous system and in no tissue but the lens [2].
  • Intermediate-filament Nestin and group B1 SOX transcription factors (SOX1/2/3) are often employed as markers for neural primordium, suggesting their regulatory link [3].
  • Here we show that SOX1, an HMG-box protein related to SRY, is one of the earliest transcription factors to be expressed in ectodermal cells committed to the neural fate: the onset of expression of SOX1 appears to coincide with the induction of neural ectoderm [4].
  • SOX1, therefore, defines the dividing neural precursors of the embryonic central nervous system (CNS) [4].

Biological context of Sox1

  • The Sox1, Sox4 and Sox14 genes do not have introns in the HMG box region [5].
  • Using a series of antigenic markers which identify early neural cell types in combination with BrdU labeling, we demonstrate a temporal and spatial correlation between the differentiation of cell types along the dorsoventral axis of the neural tube and the downregulation of SOX1 expression [4].
  • SOX2 (or SOX1/SOX3) is essential for activation of the enhancer under all conditions [6].
  • Thus, the regulation of SOX2 (and SOX1/3) and its partner factors, exemplified by Pax6, determines the spatio-temporal order of the occurrence of cell differentiation [7].
  • These factors have been identified as SOX1/2/3 (Group B1 SOX proteins, SOX2 being the major player) and Pax6, and have been shown to bind cooperatively to DC5 and form a ternary complex having a robust potency for transcriptional activation [7].

Anatomical context of Sox1

  • Sox1 transcripts are first detected in the neural fold ectoderm at the headfold stage [8].
  • Comparative expression of the mouse Sox1, Sox2 and Sox3 genes from pre-gastrulation to early somite stages [8].
  • In order to investigate the identity of these cells in the adult cerebellum, we have analyzed the expression of Sox1, a transcription factor from the SoxB1 subgroup and widely used marker of neural stem cells [9].
  • We report that forced expression of Sox1 or Sox2 did not impair propagation of undifferentiated ES cells, but upon release from self-renewal promoted differentiation into neuroectoderm at the expense of mesoderm and endoderm [10].
  • Sx1TV2/16C is a mouse embryonic stem (ES) cell line in which one copy of the Sox1 gene, an early neuroectodermal marker, has been targeted with a neomycin (G418) selection cassette [11].

Associations of Sox1 with chemical compounds

  • Misexpression of SOX1 can substitute for the requirement of retinoic acid to impart neural fate to competent ectodermal P19 cells [4].

Other interactions of Sox1

  • Our results identify these radial glia as a previously unreported Sox1/Sox2/Sox9 positive adult cell population, suggesting that these cells may represent the recently reported stem cells in the adult cerebellum [9].
  • Among 15 Sry-related genes, TS41, TS42, AS41, and AS42 shared 80, 72, 81, and 79% amino acid identity, respectively, with each HMG-box domain of the mouse Sox-1, -2, and -3 genes by Blast analysis [12].
  • Here we present the characterization of an epilepsy syndrome caused by the absence of the transcription factor SOX1 in mice [13].
  • The local inhibitory GABAergic neurotransmission remained normal in the OC of SOX1-deficient brains, but there was a severe developmental deficit of OC postsynaptic target neurons, mainly GABAergic projection neurons within the olfactory tubercle and the nucleus accumbens shell [13].
  • In situ hybridization and the use of a transgenic mouse model show that, in the adult cerebellum, Sox 1 is only expressed in the Bergmann glia, a population of radial glia present in the Purkinje cell layer [9].

Analytical, diagnostic and therapeutic context of Sox1


  1. Vertebrate neurogenesis is counteracted by Sox1-3 activity. Bylund, M., Andersson, E., Novitch, B.G., Muhr, J. Nat. Neurosci. (2003) [Pubmed]
  2. Screening for mammalian neural genes via fluorescence-activated cell sorter purification of neural precursors from Sox1-gfp knock-in mice. Aubert, J., Stavridis, M.P., Tweedie, S., O'Reilly, M., Vierlinger, K., Li, M., Ghazal, P., Pratt, T., Mason, J.O., Roy, D., Smith, A. Proc. Natl. Acad. Sci. U.S.A. (2003) [Pubmed]
  3. Interplay of SOX and POU factors in regulation of the Nestin gene in neural primordial cells. Tanaka, S., Kamachi, Y., Tanouchi, A., Hamada, H., Jing, N., Kondoh, H. Mol. Cell. Biol. (2004) [Pubmed]
  4. A role for SOX1 in neural determination. Pevny, L.H., Sockanathan, S., Placzek, M., Lovell-Badge, R. Development (1998) [Pubmed]
  5. SRY-related genes in the genome of the rice field eel (Monopterus albus). Zhou, R., Cheng, H., Zhang, Q., Guo, Y., Cooper, R.K., Tiersch, T.R. Genet. Sel. Evol. (2002) [Pubmed]
  6. Distinct roles of SOX2, Pax6 and Maf transcription factors in the regulation of lens-specific delta1-crystallin enhancer. Muta, M., Kamachi, Y., Yoshimoto, A., Higashi, Y., Kondoh, H. Genes Cells (2002) [Pubmed]
  7. Interplay of Pax6 and SOX2 in lens development as a paradigm of genetic switch mechanisms for cell differentiation. Kondoh, H., Uchikawa, M., Kamachi, Y. Int. J. Dev. Biol. (2004) [Pubmed]
  8. Comparative expression of the mouse Sox1, Sox2 and Sox3 genes from pre-gastrulation to early somite stages. Wood, H.B., Episkopou, V. Mech. Dev. (1999) [Pubmed]
  9. Stem cell marker expression in the Bergmann glia population of the adult mouse brain. Sottile, V., Li, M., Scotting, P.J. Brain Res. (2006) [Pubmed]
  10. SoxB transcription factors specify neuroectodermal lineage choice in ES cells. Zhao, S., Nichols, J., Smith, A.G., Li, M. Mol. Cell. Neurosci. (2004) [Pubmed]
  11. Electrical and neurotransmitter activity of mature neurons derived from mouse embryonic stem cells by Sox-1 lineage selection and directed differentiation. Lang, R.J., Haynes, J.M., Kelly, J., Johnson, J., Greenhalgh, J., O'brien, C., Mulholland, E.M., Baker, L., Munsie, M., Pouton, C.W. Eur. J. Neurosci. (2004) [Pubmed]
  12. Isolation and Sequence Analysis of the Sox-1, -2, -3 Homologs in Trionyx sinensis and Alligator sinensis Having Temperature-Dependent Sex Determination. Zheng, J., Zhu, M. Biochem. Genet. (2006) [Pubmed]
  13. Sox1-deficient mice suffer from epilepsy associated with abnormal ventral forebrain development and olfactory cortex hyperexcitability. Malas, S., Postlethwaite, M., Ekonomou, A., Whalley, B., Nishiguchi, S., Wood, H., Meldrum, B., Constanti, A., Episkopou, V. Neuroscience (2003) [Pubmed]
  14. Genetic selection of sox1GFP-expressing neural precursors removes residual tumorigenic pluripotent stem cells and attenuates tumor formation after transplantation. Chung, S., Shin, B.S., Hedlund, E., Pruszak, J., Ferree, A., Kang, U.J., Isacson, O., Kim, K.S. J. Neurochem. (2006) [Pubmed]
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