메뉴 건너뛰기




Volumn 90, Issue 3, 2003, Pages 573-585

Analysis of SOX10 mutations identified in Waardenburg-Hirschsprung patients: Differential effects on target gene regulation

Author keywords

HMG domain; Intestinal aganglionosis; Neural crest; P0; RET; SOX10; Waardenburg Hirschsprung syndrome

Indexed keywords

HIGH MOBILITY GROUP B PROTEIN; LUCIFERASE; MUTANT PROTEIN; MYELIN PROTEIN; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR SOX10; UNCLASSIFIED DRUG;

EID: 0141988843     PISSN: 07302312     EISSN: None     Source Type: Journal    
DOI: 10.1002/jcb.10656     Document Type: Article
Times cited : (48)

References (43)
  • 1
    • 0020596651 scopus 로고
    • Waardenburg and Hirschsprung syndromes
    • Ambani LM. 1983. Waardenburg and Hirschsprung syndromes. J Pediatr 102:802.
    • (1983) J Pediatr , vol.102 , pp. 802
    • Ambani, L.M.1
  • 2
    • 0034764984 scopus 로고    scopus 로고
    • Hirschsprung disease, associated syndromes, and genetics: A review
    • Amiel J, Lyonnet S. 2001 Hirschsprung disease, associated syndromes, and genetics: A review. J Med Genet 38:729-739.
    • (2001) J Med Genet , vol.38 , pp. 729-739
    • Amiel, J.1    Lyonnet, S.2
  • 3
    • 0025037703 scopus 로고
    • Waardenburg syndrome and Hirschsprung disease: Evidence for pleiotropic effects of a single dominant gene
    • Badner JA, Chakravarti A. 1990. Waardenburg syndrome and Hirschsprung disease: Evidence for pleiotropic effects of a single dominant gene. Am J Med Genet 35:100-104.
    • (1990) Am J Med Genet , vol.35 , pp. 100-104
    • Badner, J.A.1    Chakravarti, A.2
  • 4
    • 0035891831 scopus 로고    scopus 로고
    • Human Connexin 32, a gap junction protein altered in the X-linked form of Charcot-Marie-Tooth disease, is directly regulated by the transcription factor SOX10
    • Bondurand N, Girard M, Pingault V, Lemort N, Dubourg O, Goossens M. 2001. Human Connexin 32, a gap junction protein altered in the X-linked form of Charcot-Marie-Tooth disease, is directly regulated by the transcription factor SOX10. Hum Mol Genet 10:2783-2795.
    • (2001) Hum Mol Genet , vol.10 , pp. 2783-2795
    • Bondurand, N.1    Girard, M.2    Pingault, V.3    Lemort, N.4    Dubourg, O.5    Goossens, M.6
  • 7
    • 0034669139 scopus 로고    scopus 로고
    • Phylogeny of the SOX family of developmental transcription factors based on sequence and structural indicators
    • Bowles J, Schepers G, Koopman P. 2000. Phylogeny of the SOX family of developmental transcription factors based on sequence and structural indicators. Dev Biol 227:239-255.
    • (2000) Dev Biol , vol.227 , pp. 239-255
    • Bowles, J.1    Schepers, G.2    Koopman, P.3
  • 9
    • 0033980685 scopus 로고    scopus 로고
    • Protein-protein interaction of FHL2, a LIM domain protein preferentially expressed in human heart, with hCDC47
    • Chan KK, Tsui SK, Ngai SM, Lee SM, Kotaka M, Waye MM, Lee CY, Fung KP. 2000. Protein-protein interaction of FHL2, a LIM domain protein preferentially expressed in human heart, with hCDC47. J Cell Biochem 76:499-508.
    • (2000) J Cell Biochem , vol.76 , pp. 499-508
    • Chan, K.K.1    Tsui, S.K.2    Ngai, S.M.3    Lee, S.M.4    Kotaka, M.5    Waye, M.M.6    Lee, C.Y.7    Fung, K.P.8
  • 11
    • 0032833425 scopus 로고    scopus 로고
    • Myelin deficiencies in both the central and the peripheral nervous systems associated with a SOX10 mutation
    • Inoue K, Tanabe Y, Lupski JR. 1999. Myelin deficiencies in both the central and the peripheral nervous systems associated with a SOX10 mutation. Ann Neurol 46:313-318.
    • (1999) Ann Neurol , vol.46 , pp. 313-318
    • Inoue, K.1    Tanabe, Y.2    Lupski, J.R.3
  • 12
    • 0034175998 scopus 로고    scopus 로고
    • Pairing SOX off: With partners in the regulation of embryonic development
    • Kamachi Y, Uchikawa M, Kondoh H. 2000. Pairing SOX off: With partners in the regulation of embryonic development. Trends Genet 16:182-187.
    • (2000) Trends Genet , vol.16 , pp. 182-187
    • Kamachi, Y.1    Uchikawa, M.2    Kondoh, H.3
  • 14
    • 0033791525 scopus 로고    scopus 로고
    • Pax3 is required for enteric ganglia formation and functions with Sox10 to modulate expression of c-ret
    • Lang D, Chen F, Milewski R, Li J, Lu MM, Epstein JA. 2000. Pax3 is required for enteric ganglia formation and functions with Sox10 to modulate expression of c-ret. J Clin Invest 106:963-971
    • (2000) J Clin Invest , vol.106 , pp. 963-971
    • Lang, D.1    Chen, F.2    Milewski, R.3    Li, J.4    Lu, M.M.5    Epstein, J.A.6
  • 15
    • 0037447462 scopus 로고    scopus 로고
    • Sox10 and Pax3 physically interact to mediate activation of a conserved c-RET enhancer
    • Lang D, Epstein JA. 2003. Sox10 and Pax3 physically interact to mediate activation of a conserved c-RET enhancer. Hum Mol Genet 12:937-945.
    • (2003) Hum Mol Genet , vol.12 , pp. 937-945
    • Lang, D.1    Epstein, J.A.2
  • 16
    • 0034536338 scopus 로고    scopus 로고
    • Direct regulation of the microphthalmia promoter by Sox10 links Waardenburg-Shah syndrome (WS4)-associated hypopigmentation and deafness to WS2
    • Lee M, Goodall J, Verastegui C, Ballotti R, Goding CR. 2000. Direct regulation of the microphthalmia promoter by Sox10 links Waardenburg-Shah syndrome (WS4)-associated hypopigmentation and deafness to WS2. J Biol Chem 275:37978-37983.
    • (2000) J Biol Chem , vol.275 , pp. 37978-37983
    • Lee, M.1    Goodall, J.2    Verastegui, C.3    Ballotti, R.4    Goding, C.R.5
  • 17
    • 0027025971 scopus 로고
    • An inherited DNA rearrangement and gene dosage effect are responsible for the most common autosomal dominant peripheral neuropathy: Charcot-Marie-Tooth disease type 1A
    • Lupski JR. 1992. An inherited DNA rearrangement and gene dosage effect are responsible for the most common autosomal dominant peripheral neuropathy: Charcot-Marie-Tooth disease type 1A. Clin Res 40:645-652.
    • (1992) Clin Res , vol.40 , pp. 645-652
    • Lupski, J.R.1
  • 20
    • 0037112741 scopus 로고    scopus 로고
    • Sox10 haploinsufficiency affects maintenance of progenitor cells in a mouse model of Hirschsprung disease
    • Paratore C, Eichenberger C, Suter U, Sommer L. 2002. Sox10 haploinsufficiency affects maintenance of progenitor cells in a mouse model of Hirschsprung disease. Hum Mol Genet 11:3075-3085.
    • (2002) Hum Mol Genet , vol.11 , pp. 3075-3085
    • Paratore, C.1    Eichenberger, C.2    Suter, U.3    Sommer, L.4
  • 21
    • 0034756577 scopus 로고    scopus 로고
    • Survival and glial fate acquisition of neural crest cells are regulated by an interplay between the transcription factor Sox10 and extrinsic combinatorial signaling
    • Paratore C, Goerich DE, Suter U, Wegner M, Sommer L. 2001. Survival and glial fate acquisition of neural crest cells are regulated by an interplay between the transcription factor Sox10 and extrinsic combinatorial signaling. Development 128:3949-3961.
    • (2001) Development , vol.128 , pp. 3949-3961
    • Paratore, C.1    Goerich, D.E.2    Suter, U.3    Wegner, M.4    Sommer, L.5
  • 22
    • 0034004661 scopus 로고    scopus 로고
    • Protein zero gene expression is regulated by the glial transcription factor Sox10
    • Peirano RI, Goerich DE, Riethmacher D, Wegner M. 2000. Protein zero gene expression is regulated by the glial transcription factor Sox10. Mol Cell Biol 20:3198-3209.
    • (2000) Mol Cell Biol , vol.20 , pp. 3198-3209
    • Peirano, R.I.1    Goerich, D.E.2    Riethmacher, D.3    Wegner, M.4
  • 23
    • 0034663531 scopus 로고    scopus 로고
    • The glial transcription factor Sox10 binds to DNA both as monomer and dimer with different functional consequences
    • Peirano RI, Wegner M. 2000. The glial transcription factor Sox10 binds to DNA both as monomer and dimer with different functional consequences. Nucleic Acids Res 28:3047-3055.
    • (2000) Nucleic Acids Res , vol.28 , pp. 3047-3055
    • Peirano, R.I.1    Wegner, M.2
  • 28
    • 0034295096 scopus 로고    scopus 로고
    • Peripheral neuropathy with hypomyelination, chronic intestinal pseudo-obstruction and deafness: A developmental "neural crest syndrome" related to a SOX10 mutation
    • Pingault V, Guiochon-Mantel A, Bondurand N, Faure C, Lacroix C, Lyonnet S, Goossens M, Landrieu P. 2000. Peripheral neuropathy with hypomyelination, chronic intestinal pseudo-obstruction and deafness: A developmental "neural crest syndrome" related to a SOX10 mutation. Ann Neurol 48:671-676.
    • (2000) Ann Neurol , vol.48 , pp. 671-676
    • Pingault, V.1    Guiochon-Mantel, A.2    Bondurand, N.3    Faure, C.4    Lacroix, C.5    Lyonnet, S.6    Goossens, M.7    Landrieu, P.8
  • 29
    • 0033906468 scopus 로고    scopus 로고
    • Transcription factor hierarchy in Waardenburg syndrome: Regulation of MITF expression by SOX10 and PAX3
    • Potterf SB, Furumura M, Dunn KJ, Arnheiter H, Pavan WJ. 2000. Transcription factor hierarchy in Waardenburg syndrome: Regulation of MITF expression by SOX10 and PAX3. Hum Genet 107:1-6.
    • (2000) Hum Genet , vol.107 , pp. 1-6
    • Potterf, S.B.1    Furumura, M.2    Dunn, K.J.3    Arnheiter, H.4    Pavan, W.J.5
  • 30
    • 0035884056 scopus 로고    scopus 로고
    • Analysis of SOX10 function in neural crest-derived melanocyte development: SOX10-dependent transcriptional control of dopachrome tautomerase
    • Potterf SB, Mollaaghababa R, Hou L, Southard-Smith EM, Hornyak TJ, Arnheiter H, Pavan WJ. 2001. Analysis of SOX10 function in neural crest-derived melanocyte development: SOX10-dependent transcriptional control of dopachrome tautomerase. Dev Biol 237:245-257.
    • (2001) Dev Biol , vol.237 , pp. 245-257
    • Potterf, S.B.1    Mollaaghababa, R.2    Hou, L.3    Southard-Smith, E.M.4    Hornyak, T.J.5    Arnheiter, H.6    Pavan, W.J.7
  • 32
    • 0019406679 scopus 로고
    • White forelock, pigmentary disorder of irides, and long segment Hirschsprung disease: Possible variant of Waardenburg syndrome
    • Shah KN, Dalal SJ, Desai MP, Sheth PN, Joshi NC, Ambani LM. 1981. White forelock, pigmentary disorder of irides, and long segment Hirschsprung disease: Possible variant of Waardenburg syndrome. J Pediatr 99:432-435.
    • (1981) J Pediatr , vol.99 , pp. 432-435
    • Shah, K.N.1    Dalal, S.J.2    Desai, M.P.3    Sheth, P.N.4    Joshi, N.C.5    Ambani, L.M.6
  • 33
    • 19244374248 scopus 로고    scopus 로고
    • Novel mutations of SOX10 suggest a dominant negative role in Waardenburg-Shah syndrome
    • Sham MH, Lui VC, Chen BL, Fu M, Tam PK. 2001a. Novel mutations of SOX10 suggest a dominant negative role in Waardenburg-Shah syndrome. J Med Genet 38:E30.
    • (2001) J Med Genet , vol.38
    • Sham, M.H.1    Lui, V.C.2    Chen, B.L.3    Fu, M.4    Tam, P.K.5
  • 34
    • 0034918382 scopus 로고    scopus 로고
    • SOX10 is abnormally expressed in aganglionic bowel of Hirschsprung's disease infants
    • Sham MH, Lui VC, Fu M, Chen B, Tam PK. 2001b. SOX10 is abnormally expressed in aganglionic bowel of Hirschsprung's disease infants. Gut 49:220-226.
    • (2001) Gut , vol.49 , pp. 220-226
    • Sham, M.H.1    Lui, V.C.2    Fu, M.3    Chen, B.4    Tam, P.K.5
  • 36
    • 0031984825 scopus 로고    scopus 로고
    • Sox10 mutation disrupts neural crest development in Dom Hirschsprung mouse model
    • Southard-Smith EM, Kos L, Pavan WJ. 1998. Sox10 mutation disrupts neural crest development in Dom Hirschsprung mouse model. Nat Genet 18:60-64.
    • (1998) Nat Genet , vol.18 , pp. 60-64
    • Southard-Smith, E.M.1    Kos, L.2    Pavan, W.J.3
  • 39
    • 0033151875 scopus 로고    scopus 로고
    • Development of the mammalian enteric nervous system
    • Taraviras S, Pachnis V. 1999. Development of the mammalian enteric nervous system. Curr Opin Genet Dev 9:321-327.
    • (1999) Curr Opin Genet Dev , vol.9 , pp. 321-327
    • Taraviras, S.1    Pachnis, V.2
  • 41
    • 0034613374 scopus 로고    scopus 로고
    • Regulation of the microphthalmia-associated transcription factor gene by the Waardenburg syndrome type 4 gene, SOX10
    • Verastegui C, Bille K, Ortonne JP, Ballotti R. 2000. Regulation of the microphthalmia-associated transcription factor gene by the Waardenburg syndrome type 4 gene, SOX10. J Biol Chem 275:30757-30760.
    • (2000) J Biol Chem , vol.275 , pp. 30757-30760
    • Verastegui, C.1    Bille, K.2    Ortonne, J.P.3    Ballotti, R.4
  • 42
    • 0033559518 scopus 로고    scopus 로고
    • From head to toes: The multiple facets of Sox proteins
    • Wegner M. 1999. From head to toes: The multiple facets of Sox proteins. Nucleic Acids Res 27:1409-1420.
    • (1999) Nucleic Acids Res , vol.27 , pp. 1409-1420
    • Wegner, M.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.