Skip to main content
SpringerLink
Log in

SOX Genes: Architects of Development

  • Minireviews
  • Published:
Molecular Medicine Aims and scope Submit manuscript

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Subscribe and save

Springer+ Basic
$34.99 /Month
  • Get 10 units per month
  • Download Article/Chapter or eBook
  • 1 Unit = 1 Article or 1 Chapter
  • Cancel anytime
Subscribe now

Buy Now

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2
FIG. 3

References

  1. Mitchell P, Tjian R. (1989) Transcription regulation in mammalian cells by sequence-specific DNA binding proteins. Science 245: 371–378.

    Article  CAS  PubMed  Google Scholar 

  2. Tjian R, Maniatis T. (1994) Transcriptional activation: A complex puzzle with few easy pieces. Cell 77: 5–8.

    Article  CAS  PubMed  Google Scholar 

  3. Busch SJ, Sassone CP. (1990) Dimers, leucine zippers and DNA-binding domains. Trends Genet. 6: 36–40.

    Article  CAS  PubMed  Google Scholar 

  4. Struhl K. (1990) Helix-turn-helix, zinc-finger, and leucine-zipper motifs for eukaryotic transcriptional regulatory proteins. Trends Biochem. 14: 137–140.

    Article  Google Scholar 

  5. Krumlauf R. (1994) Hox genes in vertebrate development. Cell 78: 191–201.

    Article  CAS  PubMed  Google Scholar 

  6. Hill RE, Hanson IM. (1992) Molecular genetics of the Pax gene family. Curr. Opin. Cell Biol. 4: 967–972.

    Article  CAS  PubMed  Google Scholar 

  7. Jordan T, Hanson I, Zaletayev D, et al. (1992) The human PAX6 gene is mutated in two patients with aniridia. Nat. Genet. 1: 328–332.

    Article  CAS  PubMed  Google Scholar 

  8. Haider G, Callaerts P, Gehring W. (1995) New perspectives on eye evolution. Curr. Opin. Genet. Dev. 5: 602–609.

    Article  Google Scholar 

  9. Mirzayans F, Pearce WG, MacDonald IM, Walter M. (1995) Mutation of the PAX6 gene in patients with autosomal dominant keratitis. Am. J. Hum. Genet. 57: 539–548.

    CAS  PubMed  PubMed Central  Google Scholar 

  10. Tassabehji M, Read AP, Newton V, et al. (1992) Waardenburg’s syndrome patients have mutations in the human homologue of the Pax-3 paired box gene. Nature 355: 635–636.

    Article  CAS  PubMed  Google Scholar 

  11. Sanyanusin P, Schimmenti LA, McNoe LA, et al. (1995) Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux. Nat. Genet. 9: 358–363.

    Article  CAS  PubMed  Google Scholar 

  12. Laudet V, Stehelin D, Clevers H. (1993) Ancestry and diversity of the HMG box super-family. Nucleic Acids Res. 21: 2493–2501.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  13. Waterman M, Jones K. (1990) Purification of TCF-1α, a T-cell-specific transcription factor that activiates the T-cell receptor cα gene ehancer in a context-dependent manner. New Biol. 2: 621–636.

    CAS  PubMed  Google Scholar 

  14. Travis A, Amsterdam A, Belanger C, Grosschedl R. (1991) LEF-1, a gene encoding a lymphoid-specific protein with an HMG domain, regulates T-cell receptor α enhancer function. Gene. Dev. 5: 880–894.

    Article  CAS  PubMed  Google Scholar 

  15. van de Wetering M, Clevers H. (1992) Sequence-specific interaction of the HMG box proteins TCF-1 and SRY occurs within the minor groove of a Watson-Crick double helix. EMBO J. 11: 3039–3044.

    Article  PubMed  PubMed Central  Google Scholar 

  16. Connor F, Cary PD, Read CM, et al. (1994) DNA binding and bending properties of the post-meiotically expressed Sry-related protein Sox-5. Nucleic Acids Res. 22: 3339–3346.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  17. Harley VR, Lovell-Badge R, Goodfellow PN. (1994) Definition of a consensus DNA-binding site for SRY. Nucleic Acids Res. 22: 1500–1501.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  18. Ferrari S, Harley VR, Pontigiggia A, Goodfellow PN, Lovell-Badge R, Bianchi ME. (1992) SRY, like HMG 1, recognizes sharp angles in DNA. EMBO J. 11: 4497–4506.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  19. Giese K, Cox J, Grosschedl R. (1992) The HMG domain of lymphoid enhancer factor 1 bends DNA and facilitates assembly of functional nucleoprotein structures. Cell 69: 1–20.

    Article  Google Scholar 

  20. Grosschedl R, Giese K, Pagel J. (1994) HMG domain proteins: Architectural elements in the assembely of nucleoprotein structures. Trends Genet. 10: 94–100.

    Article  CAS  PubMed  Google Scholar 

  21. Clépet C, Schafer AJ, Sinclair AH, Palmer MS, Lovell-Badge R, Goodfellow PN. (1993) The human SRY transcript. Hum. Mol. Genet. 2: 2007–2012.

    Article  PubMed  Google Scholar 

  22. Gubbay J, Collignon J, Koopman P, et al. (1990) A gene mapping to the sex-determining region of the mouse Y chromosome is a member of a novel family of embryonically expressed genes. Nature 346: 245–250.

    Article  CAS  PubMed  Google Scholar 

  23. Sinclair A, Berta P, Palmer MS, et al. (1990) A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif. Nature 346: 240–244.

    Article  CAS  PubMed  Google Scholar 

  24. Berta P, Hawkins JR, Sinclair A, Taylor A, Griffiths BL, Goodfellow PN, Fellous M. (1990) Genetic evidence equating SRY and the male sex determining gene. Nature 348: 248–250.

    Article  Google Scholar 

  25. Koopman P, Gubbay J, Vivian N, Goodfellow P, Lovell-Badge R. (1991) Male development of chromosomally female mice transgenic for SRY. Nature 351: 117–121.

    Article  CAS  PubMed  Google Scholar 

  26. Hacker A, Capel B, Goodfellow PN, Lovell-Badge R. (1995) Expression of Sry, the mouse sex determining gene. Development 121: 1603–1614.

    CAS  PubMed  Google Scholar 

  27. Capel B, Swain A, Nicolis S, Hacker A, Walter MA, Koopman P, Goodfellow PN, Lovell-Badge R. (1993) Circular transcripts of the testis-determining geneSry in adult mouse testis. Cell 73: 1019–1030.

    Article  CAS  PubMed  Google Scholar 

  28. Haqq CM, King CY, Ukiyama E, et al. (1994) Molecular basis of mammalian sexual determination: Activation of Müllerian Inhibiting Substance gene expression by SRY. Science 266: 1494–1500.

    Article  CAS  PubMed  Google Scholar 

  29. Coriat AM, Muller U, Harry JL, Uwanogho D, Sharpe PT. (1993) PCR Amplification of Sry-related sequences reveals evolutionary conservation of the SRY-box motif. PCR Methods Appl. 2: 218–222.

    Article  CAS  PubMed  Google Scholar 

  30. Chardard D, Chesnel A, Gozé C, Doumon C, Berta P. (1993) Pw Sox-1: The first member of the Sox gene family in Urodeles. Nucleic Acids Res. 21: 3576.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  31. Denny P, Swift S, Brand N, Dabhade N, Barton P, Ashworth A. (1992) A conserved family of genes related to the testis determining gene, SRY. Nucleic Acids Res. 20: 2887.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  32. Foster JW, Graves JA. (1994) An SRY-related sequence on the marsupial X chromosome: Implications for the evolution of the mammalian testis determining gene. Proc. Natl. Acad. Sci. U.S.A. 91: 1927–1931.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  33. Griffiths R. (1991) The isolation of conserved DNA sequences related to the human sex-determining region Y gene from the lesser black-backed gull (Larus fuscus). Proc. R. Soc. Lond. B Biol. Sci. 244: 123–128.

    Article  CAS  Google Scholar 

  34. Uwanogho D, Rex M, Cartwright EJ, et al. (1995) Embryonic expression of the chicken Sox2, Sox3, and Sox11 genes suggests an interactive role in neuronal development. Mech. Dev. 49: 23–36.

    Article  CAS  PubMed  Google Scholar 

  35. Vriz S, Lovell-Badge R. (1995) The zebrafish Zf-Sox 19 protein: A novel member of the Sox family which reveals highly conserved motifs outside of the DNA-binding domain. Gene 153: 275–276.

    Article  CAS  PubMed  Google Scholar 

  36. Behlke MA, Bogan JS, Beer-Romero P, Page DC. (1993) Evidence that the SRY protein is encoded by a single exon on the human Y chromosome. Genomics 17: 736–739.

    Article  CAS  PubMed  Google Scholar 

  37. Stevanovic M, Lovell-Badge R, Collignon J, Goodfellow P. (1993) SOX3 is an X-linked gene related to SRY. Hum. Mol. Genet. 2: 2013–2018.

    Article  CAS  PubMed  Google Scholar 

  38. Farr CJ, Easty DJ, Ragoussis J, Collignon J, Lovell-Badge R, Goodfellow PN. (1993) Characterization and mapping of the human SOX4 gene. Mamm. Genome 4: 577–584.

    Article  CAS  PubMed  Google Scholar 

  39. Schilham MW, Vaneijk M, Vandewetering M, Clevers HC. (1993) The murine Sox-4 protein is encoded on a single exon. Nucleic Acids Res. 21: 2009.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  40. Foster JW, Dominguez-Steglich MA, Guioli S, et al. (1994) Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene. Nature 372: 525–530.

    Article  CAS  PubMed  Google Scholar 

  41. Wagner T, Wirth J, Meyer J, et al. (1994) Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9. Cell 79: 1111–1120.

    Article  CAS  PubMed  Google Scholar 

  42. Collignon J, Shanthini S, Hacker A, et al. (1996) A comparison of the properties of Sox-3 with Sry and two related genes, Sox-1 and Sox-2. Development 122: 509–520.

    CAS  PubMed  Google Scholar 

  43. Kamachi Y, Sockanathan S, Liu Q, Breitman M, Lovell-Badge R, Kondoh H. (1995) Involvement of SOX proteins in lens-specific activation of crystallin genes. EMBO J. 14: 3510–3519.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  44. Stevanovic M, Zuffardi O, Collignon J, Lovell-Badge R, Goodfellow P. (1994) The cDNA sequence and chromosomal location of the human SOX2 gene. Mamm. Genome 5: 640–642.

    Article  CAS  PubMed  Google Scholar 

  45. Yuan H, Corbi N, Basilico C, Dailey L. (1995) Developmental-specific activity of the FGF-4 enhancer requires the synergistic action of Sox2 and Oct-3. Gene. Dev. 9: 2635–2645.

    Article  CAS  PubMed  Google Scholar 

  46. Ohno S. (1967) Sex Chromosomes and Sex-Linked Genes. Springer, Berlin.

    Book  Google Scholar 

  47. Goze C, Poulat F, Berta P. (1993) Partial cloning of SOX-11 and SOX-12, two new human SOX genes. Nucleic Acids Res. 21: 2943.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  48. Meyer J, Wirth J, Held M, Schempp W, Scherer G. (1996) SOX20, a new member of the SOX gene family, is located on chromosome 17p13. Cytogenet. Cell Genet. 72: 246–249.

    Article  CAS  PubMed  Google Scholar 

  49. van de Wetering M, Oosterwegel M, van Norren K, Clevers H. (1993) Sox-4, a Sry-like HMG protein, is a transcriptional activator in lymphocytes. EMBO J. 12: 3847–3854.

    Article  PubMed  PubMed Central  Google Scholar 

  50. Denny P, Swift S, Connor F, Ashworth A. (1992) An SRY-related gene expressed during spermatogenesis in the mouse encodes a sequence-specific DNA-binding protein. EMBO J. 11: 3705–3712.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  51. Connor F, Wright E, Denny P, Koopman P, Ashworth A. (1995) The Sry-related HMG box-containing gene Sox6 is expressed in the adult testis and developing nervous system of the mouse. Nucleic Acids Res. 23: 3365–3372.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  52. Houston CS, Opitz JM, Spranger JW, et al. (1983) The campomelic syndrome: review, report of 17 cases, and follow-up on the currently 17-year old boy first reported by Marteaux et al. in 1971. Am. J. Med. Genet. 15: 3–28.

    Article  CAS  PubMed  Google Scholar 

  53. McKusick VA. (1992) Mendelian Inheritance in Man. The Johns Hopkins Press, Baltimore, pp. 1262–1263.

    Google Scholar 

  54. Tommerup N, Schempp W, Meinecke P, et al. (1993) Assignment of an autosomal sex reversal locus (SRA1) and campomelic dysplasia (CMPD1) to 17q24.3–25.1. Nat. Gene. 4: 170–174.

    Article  CAS  Google Scholar 

  55. Wright EM, Snopek B, Koopman P. (1993) Seven new members of the Sox gene family expressed during mouse development. Nucleic Acids Res. 21: 744.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  56. Wright E, Hargrave MR, Christiansen J, et al. (1995) The Sry-related gene Sox9 is expressed during chondrogenesis in mouse embryos. Nat. Gene. 9: 15–20.

    Article  CAS  Google Scholar 

  57. Dunn TL, Mynett-Johnson L, Wright EM, Hosking BM, Koopman PA, Muscat GEO. (1995) Sequence and expression of Sox-18 encoding a new HMG-box transcription factor. Gene 161: 223–225.

    Article  CAS  PubMed  Google Scholar 

Download references

Acknowledgments

We thank Kristin Hickey, Dr. Ian MacDonald, and Dr. Rachel Wevrick for their helpful comments, and acknowledge the support of the RP Foundation—Fighting Blindness and the Alberta Heritage Foundation for Medical Research.

Author information

Authors and Affiliations

  1. Ocular Genetics Laboratory, 671 Heritage Medical Research Center, University of Alberta, Edmonton, Alberta, T6G 2S2, Canada

    Heather M. Prior & Michael A. Walter

Authors
  1. Heather M. Prior
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Michael A. Walter
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

Prior, H.M., Walter, M.A. SOX Genes: Architects of Development. Mol Med 2, 405–412 (1996). https://doi.org/10.1007/BF03401900

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF03401900

Search

Navigation