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The importance of having your SOX on: role of SOX10 in the development of neural crest-derived melanocytes and glia

Abstract

SOX10 is a member of the high-mobility group-domain SOX family of transcription factors, which are ubiquitously found in the animal kingdom. Disruption of neural crest development in the Dominant megacolon (Dom) mice is associated with a Sox10 mutation. Mutations in human Sox10 gene have also been linked with the occurrence of neurocristopathies in the Waardenburg–Shah syndrome type IV (WS-IV), for which the Sox10Dom mice serve as a murine model. The neural crest disorders in the Sox10Dom mice and WS-IV patients consist of hypopigmentation, cochlear neurosensory deafness, and enteric aganglionosis. Consistent with these observations, a critical role for SOX10 in the proper differentiation of neural crest-derived melanocytes and glia has been demonstrated. Emerging data also show an important role for SOX10 in promoting the survival of neural crest precursor cells prior to lineage commitment. Several genes whose regulation is dependent on SOX10 function have been identified in the peripheral nervous system and in melanocytes, helping to begin the identification of the multiple pathways that appear to be modulated by SOX10 activity. In this review, we will discuss the biological relevance of these target genes to neural crest development and the properties of Sox10 as a transcription factor.

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References

  • Adlkofer K and Lai C . (2000). Glia, 29, 104–111.

  • Badner JA and Chakravarti A . (1990). Am. J. Med. Genet., 35, 100–104.

  • Bianchi ME and Beltrame M . (2000). EMBO Rep., 1, 109–114.

  • Bondurand N, Girard M, Pingault V, Lemort N, Dubourg O and Goossens M . (2001). Hum. Mol. Genet., 10, 2783–2795.

  • Bondurand NK, Kobetz A, Pingault V, Lemort N, Encha-Razavi F, Couly G, Goerich DE, Wegner M, Abitbol M and Goossens M . (1998). FEBS Lett., 432, 168–172.

  • Bondurand N, Kuhlbrodt K, Pingault V, Enderich J, Sajus M, Tommerup N, Warburg M, Hennekam RCM, Read AP, Wegner M and Goossens M . (1999). Hum. Mol. Genet., 8, 1785–1789.

  • Bondurand N, Pingault V, Goerich DE, Lemort N, Sock E, Caignec CL, Wegner M and Goossens M . (2000). Hum. Mol. Genet., 9, 1907–1917.

  • Bowles J, Schepers G and Koopman P . (2000). Dev. Biol., 227, 239–255.

  • Britsch S, Goerich DE, Riethmacher D, Peirano RI, Rossner M, Nave K-A, Birchmeier C and Wegner M . (2001). Genes Dev., 15, 66–78.

  • Cheng Y-C, Cheung M, Abu-Elmagd MM, Orme A and Scotting PJ . (2000). Dev. Brain Res., 121, 233–241.

  • Conroy WG and Berg DK . (1995). J. Biol. Chem., 270, 4424–4431.

  • Conroy WG, Vernallis AB and Berg DK . (1993). Neuron, 9, 679–691.

  • Denny P, Swift S, Connor F and Ashworth A . (1992). EMBO J., 11, 3705–3712.

  • Dunn KJ, Williams BO, Li Y and Pavan WJ . (2000). Proc. Natl. Acad. Sci. USA, 97, 10050–10055.

  • Dutton KA, Pauliny A, Lopes SS, Elworthy S, Carney TJ, Rauch J, Geisler R, Haffter P and Kelsh RN . (2001). Development, 128, 4113–4125.

  • Erickson CA and Reedy MV . (1998). Curr. Top. Dev. Biol., 40, 177–209.

  • Gabriel SB, Salomon R, Pelet A, Angrist M, Amiel J, Fornage M, Attie-Bitach T, Olson JM, Hofstra R, Buys C, Steffann J, Munnich A, Lyonnet S and Chakravarti A . (2002). Nat. Genet., 31, 89–93.

  • Goding CR . (2000). Genes Dev., 14, 1712–1728.

  • Gubbay J, Collignon J, Koopman P, Capel B, Economou A, Munsterberg A, Vivian N, Goodfellow P and Lovell-Badge R . (1990). Nature, 346, 245–250.

  • Harley VR, Lovell-Badge R and Goodfellow PN . (1994). Nucleic Acids Res., 22, 1500–1501.

  • Herbarth B, Pingault V, Bondurand N, Kuhlbrodt K, Hermans-Borgmeyer I, Puliti A, Lemort N, Goossens M and Wegner M . (1998). Proc. Natl. Acad. Sci. USA, 95, 5161–5165.

  • Hodgkinson CA, Moore KJ, Nakayama A, Steingrimsson E, Copeland NG, Jenkins NA and Arnheiter H . (1993). Cell, 74, 395–404.

  • Hosoda K, Hammer RE, Richardson JA, Greenstein Baynash A, Cheung JC, Giaid A and Yanagisawa M . (1994). Cell, 79, 1267–1276.

  • Inoue K, Tanabe Y and Lupski JR . (1999). Ann. Neurol., 46, 313–318.

  • Kamachi Y, Uchikawa M and Kondoh H . (2000). Trends Genet., 16, 182–187.

  • Kanai Y, Kanai-Azuma M, Noce T, Saido TC, Shiroishi T, Hayashi Y and Yazaki K . (1996). J. Cell. Biol., 133, 667–681.

  • Kapur RP . (1999). Pediatr. Dev. Pathol., 2, 559–569.

  • Kapur RP, Livingston R, Doggett B, Sweetser DA, Siebert JR and Palmiter RD . (1996). Dev. Biol., 174, 360–369.

  • Knecht AK and Bronner-Fraser M . (2002). Nat. Rev., 3, 453–461.

  • Korsch E, Steinkuhle J, Massin M, Lyonnet S and Touraine RL . (2001). Eur. J. Pediatr., 160, 68–69.

  • Kuhlbrodt K, Herbarth B, Sock E, Enderich J, Hermans-Borgmeyer I and Wegner W . (1998b). J. Biol. Chem., 273, 16050–16057.

  • Kuhlbrodt K, Herbarth B, Sock E, Hermans-Borgmeyer I and Wegner M . (1998a). J. Neurosci., 18, 237–250.

  • Kuhlbrodt K, Schmidt C, Sock E, Pingault V, Bondurand N, Goossens M and Wegner M . (1998c). J. Biol. Chem., 273, 23033–23038.

  • LaBonne C and Bronner-Fraser M . (1998). J. Neurobiol., 36, 175–189.

  • Lane PW and Liu HM . (1984). J. Hered., 75, 435–439.

  • Lang D, Chen F, Milewski R, Li J, Lu MM and Epstein JA . (2000). J. Clin. Invest., 106, 963–971.

  • Le Douarin NM and Kalcheim C . (1999). The Neural Crest, 2nd edn. Cambridge University Press: Cambridge, UK.

    Book  Google Scholar 

  • Lee M, Goodall J, Verastegui C, Ballotti R and Goding CR . (2000). J. Biol. Chem., 275, 37978–37983.

  • Liu Q, Melnikova IN, Hu M and Gardner PD . (1999). J. Neurosci., 19, 9747–9755.

  • Loftus SK, Chen Y, Gooden G, Ryan JF, Birznieks G, Hilliard M, Baxevanis AD, Bittner M, Meltzer P, Trent J and Pavan WJ . (1999). Proc. Natl. Acad. Sci. USA, 96, 9277–9280.

  • Loh SHY and Russell S . (2000). Mech. Dev., 93, 185–188.

  • Lu QR, Sun T, Zhu Z, Ma N, Garcia M, Stiles CD and Rowitch DH . (2002). Cell, 109, 75–86.

  • Lu QR, Yuk D, Alberta JA, Zhu Z, Pawlitzky I, Chan J, McMahon AP, Stiles CD and Rowitch DH (2000). Neuron, 25, 317–329.

  • Melnikova IN, Lin H-R, Blanchette AR and Gardner PD . (2000a). Neuropharmacology, 39, 2615–2623.

  • Melnikova IN, Yang Y and Gardner PD . (2000b). Eur. J. Pharm., 393, 75–83.

  • Mertin S, McDowall SG and Harley VR . (1999). Nucleic Acids Res., 27, 1359–1364.

  • Meyer J, Wirth J, Held M, Schempp W and Scherer G . (1996). Cytogenet. Cell Genet., 72, 246–249.

  • Osaki E, Nishina Y, Inazawa J, Copeland NG, Gilbert DJ, Jenkins NA, Ohsugi M, Tezuka T, Yoshida M and Semba K . (1999). Nucleic Acids Res., 27, 2503–2510.

  • Pani L, Horal M and Loeken MR . (2002). Genes Dev., 16, 676–680.

  • Paratore C, Goerich DE, Suter U, Wegner M and Sommer L . (2001). Development, 128, 3949–3961.

  • Parisi MA and Kapur RP . (2000). Curr. Opin. Pediatr., 12, 610–617.

  • Pavan WJ, and Tilghman SM . (1994). Proc. Natl. Acad. Sci. USA, 91, 7159–7163.

  • Peirano RI, Goerich DE, Riethmacher D and Wegner M . (2000). Mol. Cell. Biol., 20, 3198–3209.

  • Peirano RI and Wegner M . (2000). Nucleic Acids Res., 28, 3047–3055.

  • Pevny LH and Lovell-Badge R . (1997). Curr. Opin. Genet. Dev., 7, 338–344.

  • Pingault V, Bondurand N, Kuhlbrodt K, Goerich DE, Prehu M-O, Puliti A, Herbarth B, Hermans-Borgmeyer I, Legius E, Matthijs G, Amiel J, Lyonnet S, Ceccherini I, Romeo G, Smith JC, Read AP, Wegner M and Goossens M . (1998). Nat. Genet., 18, 171–173.

  • Pingault V, Guiochon-Mantel A, Bondurand N, Faure C, Lacroix C, Lyonnet S, Goossens M and Landrieu P . (2000). Ann. Neurol., 48, 671–676.

  • Potterf SB, Furumura M, Dunn KJ, Arnheiter H and Pavan WJ . (2000). Hum. Genet., 107, 1–6.

  • Potterf SB, Mollaaghababa R, Hou L, Southard-Smith EM, Hornyak TJ, Arnheiter H and Pavan WJ . (2001). Dev. Biol., 237, 245–257.

  • Prior HM and Walter MA . (1996). Mol. Med., 2, 405–412.

  • Pusch C, Hustert E, Pfeifer D, Sudbeck P, Kist R, Roe B, Wang Z, Balling R, Blin N and Scherer G . (1998). Hum. Genet., 103, 115–123.

  • Read AP . (2000). Adv. Otorhinolaryngol., 56, 32–38.

  • Riethmacher D, Sonnenberg- Riethmacher E, Brinkmann V, Yamaai T, Lewin GR and Birchmeier C . (1997). Nature, 389, 725–730.

  • Scherer SS, Deschenes SM, Xu YT, Grinspan JB, Fischbeck KH and Paul DL . (1995). J. Neurosci., 15, 8281–8294.

  • Shah NM and Anderson DJ . (1997). Proc. Natl. Acad. Sci. USA, 94, 11369–11374.

  • Shah KN, Dalal SJ, Desai MP, Sheth PN, Joshi NC and Ambani LM . (1981). J. Pediatr., 99, 432–435.

  • Shah NM, Marchionni MA, Isaacs I, Stroobant P and Anderson DJ . (1994). Cell, 77, 349–360.

  • Sham MH, Lui VCH, Chen BLS, Fu M and Tam PKH . (2001a). J. Med. Genet., 38(9), E30.

  • Sham MH, Lui VCH, Fu M, Chen B and Tam PKH . (2001b). Gut, 49, 220–226.

  • Sonnenberg-Riethmacher E, Miehe M, Stolt CC, Goerich DE, Wegner M and Riethmacher D . (2001). Mech. Dev., 109, 253–265.

  • Southard-Smith EM, Angrist M, Ellison JS, Agarwala R, Baxevanis AD, Chakravarti A and Pavan WJ . (1999b). Genome Res., 9, 215–225.

  • Southard-Smith EM, Collins JE, Ellison JS, Smith KJ, Baxevanis AD, Touchman JW, Green ED, Dunham I and Pavan WJ . (1999a). Mamm. Genome., 10, 744–749.

  • Southard-Smith EM, Kos L and Pavan WJ . (1998). Nat. Genet., 18, 60–64.

  • Stemple DL and Anderson DJ . (1992). Cell, 71, 973–985.

  • Stolt CC, Rehberg S, Ader, M, Lommes P, Riethmacher D, Schachner M, Bartsch U and Wegner M . (2002). Genes Dev., 16, 165–170.

  • Suter U and Snipes GJ . (1995). Annu. Rev. Neurosci., 18, 45–75.

  • Touraine RL, Attie-Bitach T, Manceau E, Korsch E, Sarda P, Pingault V, Encha-Razavi F . Pelet A, Auge J, Nivelon-Chevallier A, Holschneider AM, Munnes M, Doerfler W, Goossens M, Munnich A, Vekemans M and Lyonnet S . (2000). Am. J. Hum. Genet., 66, 1496–1503.

  • Uchikawa M, Kamachi Y and Kondoh H . (1999). Mech. Dev., 84, 103–120.

  • van de Wetering M and Clevers H . (1993). Nucleic Acids Res., 21, 1669.

  • Verastegui C, Bille K, Ortonne J-P and Ballotti R . (2000). J. Biol. Chem., 275, 30757–30760.

  • Watanabe K-I, Takeda K, Katori Y, Ikeda K, Oshima T, Yasumoto K-I, Saito H, Takasaka T and Shibahara S . (2000). Mol. Brain Res., 84, 141–145.

  • Watanabe K-I, Takeda K, Yasumoto K-I, Udono T, Saito H, Ikeda K, Takasaka T, Takahashi K, Kobayashi T, Tachibana M and Shibahara S . (2002). Pigm. Cell Res., 15, 201–211.

  • Wegner M . (1999). Nucleic Acids Res., 27, 1409–1420.

  • Weiss MA . (2001). Mol. Endocrinol., 15, 353–362.

  • Wright EM, Snopek B and Koopman R . (1993). Nucleic Acids Res., 21, 744.

  • Zhou Q and Anderson DJ . (2002). Cell, 109, 61–73.

  • Zhou Q, Wang S and Anderson DJ . (2000). Neuron, 25, 331–343.

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Correspondence to William J Pavan.

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Gene symbols and proteins are respectively designated by italic and upper-case letters throughout the text.

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Mollaaghababa, R., Pavan, W. The importance of having your SOX on: role of SOX10 in the development of neural crest-derived melanocytes and glia. Oncogene 22, 3024–3034 (2003). https://doi.org/10.1038/sj.onc.1206442

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