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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