SOX2


SOX2

SRY (sex determining region Y)-box 2, also known as SOX2, is a transcription factor that is essential to maintain self-renewal of undifferentiated embryonic stem cells.

This intronless 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).cite web | title = Entrez Gene: SOX2 SRY (sex determining region Y)-box 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6657| accessdate = ]

The ectopic expression of SOX2 may be related to abnormal differentiation of colorectal cancer cells. [ cite journal |author= |title=Transcription factor SOX2 up-regulates stomach-specific pepsinogen A gene expression |journal=J Cancer Res Clin Oncol |volume= |issue= |pages= |year= |pmid=17136346|doi=10.1007/s00432-006-0165-x]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Kamachi Y, Uchikawa M, Kondoh H |title=Pairing SOX off: with partners in the regulation of embryonic development. |journal=Trends Genet. |volume=16 |issue= 4 |pages= 182–7 |year= 2000 |pmid= 10729834 |doi=
*cite journal | author=Schepers GE, Teasdale RD, Koopman P |title=Twenty pairs of sox: extent, homology, and nomenclature of the mouse and human sox transcription factor gene families. |journal=Dev. Cell |volume=3 |issue= 2 |pages= 167–70 |year= 2002 |pmid= 12194848 |doi=
*cite journal | author=Hever AM, Williamson KA, van Heyningen V |title=Developmental malformations of the eye: the role of PAX6, SOX2 and OTX2. |journal=Clin. Genet. |volume=69 |issue= 6 |pages= 459–70 |year= 2007 |pmid= 16712695 |doi= 10.1111/j.1399-0004.2006.00619.x
*cite journal | author=Yuan H, Corbi N, Basilico C, Dailey L |title=Developmental-specific activity of the FGF-4 enhancer requires the synergistic action of Sox2 and Oct-3. |journal=Genes Dev. |volume=9 |issue= 21 |pages= 2635–45 |year= 1995 |pmid= 7590241 |doi=
*cite journal | author=Stevanovic M, Zuffardi O, Collignon J, "et al." |title=The cDNA sequence and chromosomal location of the human SOX2 gene. |journal=Mamm. Genome |volume=5 |issue= 10 |pages= 640–2 |year= 1995 |pmid= 7849401 |doi=
*cite journal | author=Bonaldo MF, Lennon G, Soares MB |title=Normalization and subtraction: two approaches to facilitate gene discovery. |journal=Genome Res. |volume=6 |issue= 9 |pages= 791–806 |year= 1997 |pmid= 8889548 |doi=
*cite journal | author=Helland R, Berglund GI, Otlewski J, "et al." |title=High-resolution structures of three new trypsin-squash-inhibitor complexes: a detailed comparison with other trypsins and their complexes. |journal=Acta Crystallogr. D Biol. Crystallogr. |volume=55 |issue= Pt 1 |pages= 139–48 |year= 1999 |pmid= 10089404 |doi= 10.1107/S090744499801052X
*cite journal | author=Güre AO, Stockert E, Scanlan MJ, "et al." |title=Serological identification of embryonic neural proteins as highly immunogenic tumor antigens in small cell lung cancer. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=97 |issue= 8 |pages= 4198–203 |year= 2000 |pmid= 10760287 |doi=
*cite journal | author=Ambrosetti DC, Schöler HR, Dailey L, Basilico C |title=Modulation of the activity of multiple transcriptional activation domains by the DNA binding domains mediates the synergistic action of Sox2 and Oct-3 on the fibroblast growth factor-4 enhancer. |journal=J. Biol. Chem. |volume=275 |issue= 30 |pages= 23387–97 |year= 2000 |pmid= 10801796 |doi= 10.1074/jbc.M000932200
*cite journal | author=Kamachi Y, Uchikawa M, Tanouchi A, "et al." |title=Pax6 and SOX2 form a co-DNA-binding partner complex that regulates initiation of lens development. |journal=Genes Dev. |volume=15 |issue= 10 |pages= 1272–86 |year= 2001 |pmid= 11358870 |doi= 10.1101/gad.887101
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Fantes J, Ragge NK, Lynch SA, "et al." |title=Mutations in SOX2 cause anophthalmia. |journal=Nat. Genet. |volume=33 |issue= 4 |pages= 461–3 |year= 2003 |pmid= 12612584 |doi= 10.1038/ng1120
*cite journal | author=Wiebe MS, Nowling TK, Rizzino A |title=Identification of novel domains within Sox-2 and Sox-11 involved in autoinhibition of DNA binding and partnership specificity. |journal=J. Biol. Chem. |volume=278 |issue= 20 |pages= 17901–11 |year= 2003 |pmid= 12637543 |doi= 10.1074/jbc.M212211200
*cite journal | author=Aota S, Nakajima N, Sakamoto R, "et al." |title=Pax6 autoregulation mediated by direct interaction of Pax6 protein with the head surface ectoderm-specific enhancer of the mouse Pax6 gene. |journal=Dev. Biol. |volume=257 |issue= 1 |pages= 1–13 |year= 2003 |pmid= 12710953 |doi=
*cite journal | author=Schepers G, Wilson M, Wilhelm D, Koopman P |title=SOX8 is expressed during testis differentiation in mice and synergizes with SF1 to activate the Amh promoter in vitro. |journal=J. Biol. Chem. |volume=278 |issue= 30 |pages= 28101–8 |year= 2003 |pmid= 12732652 |doi= 10.1074/jbc.M304067200
*cite journal | author=Reményi A, Lins K, Nissen LJ, "et al." |title=Crystal structure of a POU/HMG/DNA ternary complex suggests differential assembly of Oct4 and Sox2 on two enhancers. |journal=Genes Dev. |volume=17 |issue= 16 |pages= 2048–59 |year= 2003 |pmid= 12923055 |doi= 10.1101/gad.269303
*cite journal | author=Williams DC, Cai M, Clore GM |title=Molecular basis for synergistic transcriptional activation by Oct1 and Sox2 revealed from the solution structure of the 42-kDa Oct1.Sox2.Hoxb1-DNA ternary transcription factor complex. |journal=J. Biol. Chem. |volume=279 |issue= 2 |pages= 1449–57 |year= 2004 |pmid= 14559893 |doi= 10.1074/jbc.M309790200
*cite journal | author=Tsukamoto T, Inada K, Tanaka H, "et al." |title=Down-regulation of a gastric transcription factor, Sox2, and ectopic expression of intestinal homeobox genes, Cdx1 and Cdx2: inverse correlation during progression from gastric/intestinal-mixed to complete intestinal metaplasia. |journal=J. Cancer Res. Clin. Oncol. |volume=130 |issue= 3 |pages= 135–45 |year= 2004 |pmid= 14655050 |doi= 10.1007/s00432-003-0519-6

External links

* [http://jura.wi.mit.edu/young_public/hESregulation/index.html Young Lab- Core Transcriptional Regulatory Circuitry in Human Embryonic Stem Cells]

* [http://www.jove.com/index/details.stp?ID=734 Generating iPS Cells from MEFS through Forced Expression of Sox-2, Oct-4, c-Myc, and Klf4]

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Look at other dictionaries:

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  • SOX2 — Le SOX2 184429 (en) est un gène localisé sur le chromosome 3 au niveau du locus q26.3 q27. La région codante comprend un unique exon. Il appartient au groupe des gènes SOXB comprenant aussi SOX1, SOX3, SOX14, et SOX21. Le produit de ce gène est… …   Wikipédia en Français

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  • Pathologies oculaires par mutation du gene SOX2 — Pathologies oculaires par mutation du gène SOX2 Pathologies oculaires par mutation du gène SOX2 Autre nom {{{Autre nom}}} Référence MIM …   Wikipédia en Français

  • Pathologies oculaires par mutation du gène sox2 — Autre nom {{{Autre nom}}} Référence MIM …   Wikipédia en Français

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  • Sox 2 — Sox2 La protéine Sox2 est un facteur de transcription essentiel dans le maintien de l’auto renouvellement des cellules souches embryogéniques indifférenciées. Identification Source Symbole Sox2 UniProt P48431[1] OMIM 206900[2],184429 …   Wikipédia en Français


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