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SRY (sex determining region Y)-box 8
Identifiers
Symbols SOX8; MGC24837
External IDs OMIM605923 MGI98370 HomoloGene7950 GeneCards: SOX8 Gene
Orthologs
Species Human Mouse
Entrez 30812 20681
Ensembl ENSG00000005513 ENSMUSG00000024176
UniProt P57073 Q543C3
RefSeq (mRNA) NM_014587 NM_011447
RefSeq (protein) NP_055402 NP_035577
Location (UCSC) Chr 16:
0.97 - 0.98 Mb
Chr 17:
25.29 - 25.3 Mb
PubMed search [1] [2]

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 (ART-16 syndrome).[3]

See also

References

  1. ^ Pfeifer D, Poulat F, Holinski-Feder E, Kooy F, Scherer G (Apr 2000). "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. doi:10.1006/geno.1999.6060. PMID 10662550.  
  2. ^ Schepers GE, Bullejos M, Hosking BM, Koopman P (Apr 2000). "Cloning and characterisation of the Sry-related transcription factor gene Sox8". Nucleic Acids Res 28 (6): 1473-80. PMID 10684944.  
  3. ^ a b "Entrez Gene: SOX8 SRY (sex determining region Y)-box 8". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=30812.  

Further reading

  • Daniels RJ, Peden JF, Lloyd C, et al. (2001). "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. doi:10.1093/hmg/10.4.339. PMID 11157797.  
  • Cheng YC, Lee CJ, Badge RM, et al. (2001). "Sox8 gene expression identifies immature glial cells in developing cerebellum and cerebellar tumours.". Brain Res. Mol. Brain Res. 92 (1-2): 193–200. doi:10.1016/S0169-328X(01)00147-4. PMID 11483257.  
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "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. doi:10.1073/pnas.242603899. PMID 12477932.  
  • Gevaert K, Goethals M, Martens L, et al. (2004). "Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides.". Nat. Biotechnol. 21 (5): 566–9. doi:10.1038/nbt810. PMID 12665801.  
  • Schepers G, Wilson M, Wilhelm D, Koopman P (2003). "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. doi:10.1074/jbc.M304067200. PMID 12732652.  
  • Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.  
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.  
  • Martin J, Han C, Gordon LA, et al. (2005). "The sequence and analysis of duplication-rich human chromosome 16.". Nature 432 (7020): 988–94. doi:10.1038/nature03187. PMID 15616553.  
  • Wissmüller S, Kosian T, Wolf M, et al. (2006). "The high-mobility-group domain of Sox proteins interacts with DNA-binding domains of many transcription factors.". Nucleic Acids Res. 34 (6): 1735–44. doi:10.1093/nar/gkl105. PMID 16582099.  
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