SOX8 explained

Transcription factor SOX-8 is a protein that in humans is encoded by the SOX8 gene.^{[1] [2] [3]}

This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional activator after forming a protein complex with other proteins. This protein may be involved in brain development and function. Haploinsufficiency for this protein may contribute to the mental retardation found in haemoglobin H-related mental retardation (ATR-16 syndrome).

See also

• SOX genes

Further reading

• Daniels RJ, Peden JF, Lloyd C, etal . Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16 . Hum. Mol. Genet. . 10 . 4 . 339–52 . 2001 . 11157797 . 10.1093/hmg/10.4.339 . free .
• Cheng YC, Lee CJ, Badge RM, etal . Sox8 gene expression identifies immature glial cells in developing cerebellum and cerebellar tumours . Brain Res. Mol. Brain Res. . 92 . 1–2 . 193–200 . 2001 . 11483257 . 10.1016/S0169-328X(01)00147-4 .
• Strausberg RL, Feingold EA, Grouse LH, etal . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . free .
• Gevaert K, Goethals M, Martens L, etal . Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides . Nat. Biotechnol. . 21 . 5 . 566–9 . 2004 . 12665801 . 10.1038/nbt810 . 23783563 .
• Schepers G, Wilson M, Wilhelm D, Koopman P . SOX8 is expressed during testis differentiation in mice and synergizes with SF1 to activate the Amh promoter in vitro . J. Biol. Chem. . 278 . 30 . 28101–8 . 2003 . 12732652 . 10.1074/jbc.M304067200 . free .
• Ota T, Suzuki Y, Nishikawa T, etal . Complete sequencing and characterization of 21,243 full-length human cDNAs . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . free .
• Gerhard DS, Wagner L, Feingold EA, etal . The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC) . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 .
• Martin J, Han C, Gordon LA, etal . The sequence and analysis of duplication-rich human chromosome 16 . Nature . 432 . 7020 . 988–94 . 2005 . 15616553 . 10.1038/nature03187 . 2004Natur.432..988M . 4362044 . free .
• Wissmüller S, Kosian T, Wolf M, etal . The high-mobility-group domain of Sox proteins interacts with DNA-binding domains of many transcription factors . Nucleic Acids Res. . 34 . 6 . 1735–44 . 2006 . 16582099 . 10.1093/nar/gkl105 . 1421504 .

Notes and References

1. Pfeifer D, Poulat F, Holinski-Feder E, Kooy F, Scherer G . The SOX8 gene is located within 700 kb of the tip of chromosome 16p and is deleted in a patient with ATR-16 syndrome . Genomics . 63 . 1 . 108–16 . Apr 2000 . 10662550 . 10.1006/geno.1999.6060 .
2. Schepers GE, Bullejos M, Hosking BM, Koopman P . Cloning and characterisation of the Sry-related transcription factor gene Sox8 . Nucleic Acids Res . 28 . 6 . 1473–80 . Apr 2000 . 10684944 . 111037 . 10.1093/nar/28.6.1473 .
3. Web site: Entrez Gene: SOX8 SRY (sex determining region Y)-box 8.