SEARCH

SEARCH BY CITATION

References

  • 1
    Read AP & Newton VE (1997) Waardenburg syndrome. J Med Genet 34, 656665.
  • 2
    Tassabehji M, Read AP, Newton VE, Harris R, Balling R, Gruss P & Strachan T (1992) Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene. Nature 355, 635636.
  • 3
    Tassabehji M, Newton VE & Read AP (1994) Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene. Nat Genet 8, 251255.
  • 4
    Sánchez-Martín M, Rodríguez-García A, Pérez-Losada J, Sagrera A, Read AP & Sánchez-García I (2002) SLUG (SNAI2) deletions in patients with Waardenburg disease. Hum Mol Genet 11, 32313236.
  • 5
    Puffenberger EG, Hosoda K, Washington SS, Nakao K, deWit D, Yanagisawa M & Chakravarti A (1994) A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease. Cell 79, 12571266.
  • 6
    Syrris P, Carter ND & Patton MA (1999) Novel nonsense mutation of the endothelin-B receptor gene in a family with Waardenburg–Hirschsprung disease. Am J Med Genet 87, 6971.
  • 7
    Edery P, Attié T, Amiel J, Pelet A, Eng C, Hofstra RMW, Martelli H, Bidaud C, Munnich A & Lyonnet S (1996) Mutation of the endothelin-3 gene in the Waardenburg–Hirschsprung disease (Shah–Waardenburg syndrome). Nat Genet 12, 442444.
  • 8
    Pingault V, Bondurand N, Lemort N, Sancandi M, Ceccherini I, Hugot JP, Jouk PS & Goossens M (2001) A heterozygous endothelin 3 mutation in Waardenburg–Hirschsprung disease: is there a dosage effect of EDN3/EDNRB gene mutations on neurocristopathy phenotypes? J Med Genet 38, 205209.
  • 9
    Pingault V, Bondurand N, Kuhlbrodt K, Goerich DE, Prehu MO, Puliti A, Herbarth B, Hermans-Borgmeyer I, Legius E, Matthijs G et al. (1998) SOX10 mutations in patients with Waardenburg–Hirschsprung disease. Nat Genet 18, 171173.
  • 10
    Opdecamp K, Nakayama A, Nguyen MT, Hodgkinson CA, Pavan WJ & Arnheiter H (1997) Melanocyte development in vivo and in neural crest cell cultures: crucial dependence on the Mitf basic-helix-loop-helix-zipper transcription factor. Development 124, 23772386.
  • 11
    Hodgkinson CA, Nakayama A, Li H, Swenson LB, Opdecamp K, Asher JH Jr, Arnheiter H & Glaser T (1998) Mutation at the anophthalmic white locus in Syrian hamsters: haploinsufficiency in the Mitf gene mimics human Waardenburg syndrome type 2. Hum Mol Genet 7, 703708.
  • 12
    Nakayama A, Nguyen MT, Chen CC, Opdecamp K, Hodgkinson CA & Arnheiter H (1998) Mutations in microphthalmia, the mouse homolog of the human deafness gene MITF, affect neuroepithelial and neural crest-derived melanocytes differently. Mech Dev 70, 155166.
  • 13
    Watanabe A, Takeda K, Ploplis B & Tachibana M (1998) Epistatic relationship between Waardenburg syndrome genes MITF and PAX3. Nat Genet 18, 283286.
  • 14
    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, 16.
  • 15
    Bondurand N, Pingault V, Goerich DE, Lemort N, Sock E, Caignec CL, Wegner M & Goossens M (2000) Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome. Hum Mol Genet 9, 19071917.
  • 16
    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, 3797837983.
  • 17
    Watanabe K, Takeda K, Yasumoto K, Udono T, Saito H, Ikeda K, Takasaka T, Takahashi K, Kobayashi T, Tachibana M et al. (2002) Identification of a distal enhancer for the melanocyte-specific promoter of the MITF gene. Pigment Cell Res 15, 201211.
  • 18
    Zhu L, Lee HO, Jordan CS, Cantrell VA, Southard-Smith EM & Shin MK (2004) Spatiotemporal regulation of endothelin receptor-B by SOX10 in neural crest-derived enteric neuron precursors. Nat Genet 36, 732737.
  • 19
    Southard-Smith EM, Kos L & Pavan WJ (1998) Sox10 mutation disrupts neural crest development in Dom Hirschsprung mouse model. Nat Genet 18, 6064.
  • 20
    Herbarth B, Pingault V, Bondurand N, Kuhlbrodt K, Hermans-Borgmeyer I, Puliti A, Lemort N, Goossens M & Wegner M (1998) Mutation of the Sry-related Sox10 gene in Dominant megacolon, a mouse model for human Hirschsprung disease. Proc Natl Acad Sci USA 95, 51615165.
  • 21
    Wegner M (1999) From head to toes: the multiple facets of Sox proteins. Nucleic Acids Res 27, 14091420.
  • 22
    Southard-Smith EM, Angrist M, Ellison JS, Agarwala R, Baxevanis AD, Chakravarti A & Pavan WJ (1999) The Sox10 (Dom) mouse: modeling the genetic variation of Waardenburg–Shah (WS4) syndrome. Genome Res 9, 215225.
  • 23
    Kuhlbrodt K, Schmidt C, Sock E, Pingault V, Bondurand N, Goossens M & Wegner M (1998) Functional analysis of Sox10 mutations found in human Waardenburg–Hirschsprung patients. J Biol Chem 273, 2303323038.
  • 24
    Bondurand N, Kuhlbrodt K, Pingault V, Enderich J, Sajus M, Tommerup N, Warburg M, Hennekam RC, Read AP, Wegner M et al. (1999) A molecular analysis of the yemenite deaf–blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies. Hum Mol Genet 8, 17851789.
  • 25
    Sakurai T, Yanagisawa M, Takuwa Y, Miyazaki H, Kimura S, Goto K & Masaki T (1990) Cloning of a cDNA encoding a non-isopeptide-selective subtype of the endothelin receptor. Nature 348, 732735.
  • 26
    Inoue A, Yanagisawa M, Kimura S, Kasuya Y, Miyauchi T, Goto K & Masaki T (1989) The human endothelin family: three structurally and pharmacologically distinct isopeptides predicted by three separate genes. Proc Natl Acad Sci USA 86, 28632867.
  • 27
    Arai H, Hori S, Aramori I, Ohkubo H & Nakanishi S (1990) Cloning and expression of a cDNA encoding an endothelin receptor. Nature 348, 730732.
  • 28
    Lin HY, Kaji EH, Winkel GK, Ives HE & Lodish HF (1991) Cloning and functional expression of a vascular smooth muscle endothelin 1 receptor. Proc Natl Acad Sci USA 88, 31853189.
  • 29
    Inagaki H, Bishop AE, Escrig C, Wharton J, Allen-Mersh TG & Polak JM (1991) Localization of endothelinlike immunoreactivity and endothelin binding sites in human colon. Gastroenterology 101, 4754.
  • 30
    Sakamoto A, Yanagisawa M, Sakurai T, Takuwa Y, Yanagisawa H & Masaki T (1991) Cloning and functional expression of human cDNA for the ETB endothelin receptor. Biochem Biophys Res Commun 178, 656663.
  • 31
    Baynash AG, Hosoda K, Giaid A, Richardson JA, Emoto N, Hammer RE & Yanagisawa M (1994) Interaction of endothelin-3 with endothelin-B receptor is essential for development of epidermal melanocytes and enteric neurons. Cell 79, 12771285.
  • 32
    Lee HO, Levorse JM & Shin MK (2003) The endothelin receptor-B is required for the migration of neural crest-derived melanocyte and enteric neuron precursors. Dev Biol 259, 162175.
  • 33
    Tsutsumi M, Liang G & Jones PA (1999) Novel endothelin B receptor transcripts with the potential of generating a new receptor. Gene 228, 4349.
  • 34
    Ogawa Y, Nakao K, Arai H, Nakagawa O, Hosoda K, Suga S, Nakanishi S & Imura H (1991) Molecular cloning of a non-isopeptide-selective human endothelin receptor. Biochem Biophys Res Commun 178, 248255.
  • 35
    Arai H, Nakao K, Takaya K, Hosoda K, Ogawa Y, Nakanishi S & Imura H (1993) The human endothelin-B receptor gene. Structural organization and chromosomal assignment. J Biol Chem 268, 34633470.
  • 36
    Melnikova IN, Yang Y & Gardner PD (2000) Interactions between regulatory proteins that bind to the nicotinic receptor beta4 subunit gene promoter. Eur J Pharmacol 393, 7583.
  • 37
    Melnikova IN, Lin HR, Blanchette AR & Gardner PD (2000) Synergistic transcriptional activation by Sox10 and Sp1 family members. Neuropharmacology 39, 26152623.
  • 38
    Dynan WS & Tjian R (1983) Isolation of transcription factors that discriminate between different promoters recognized by RNA polymerase II. Cell 32, 669680.
  • 39
    Liu Q, Melnikova IN, Hu M & Gardner PD (1999) Cell type-specific activation of neuronal nicotinic acetylcholine receptor subunit genes by Sox10. J Neurosci 19, 97479755.
  • 40
    Nelson JB, Lee WH, Nguyen SH, Jarrard DF, Brooks JD, Magnuson SR, Opgenorth TJ, Nelson WG & Bova GS (1997) Methylation of the 5′-CpG island of the endothelin B receptor gene is common in human prostate cancer. Cancer Res 57, 3537.
  • 41
    Pao MM, Tsutsumi M, Liang G, Uzvolgyi E, Gonzales FA & Jones PA (2001) The endothelin receptor B (EDNRB) promoter displays heterogeneous, site specific methylation patterns in normal and tumor cells. Hum Mol Genet 10, 903910.
  • 42
    Lo KW, Tsang YS, Kwong J, To KF, Teo PM & Huang DP (2002) Promoter hypermethylation of the EDNRB gene in nasopharyngeal carcinoma. Int J Cancer 98, 651655.
  • 43
    Bird AP (1986) CpG-rich islands and the function of DNA methylation. Nature 321, 209213.
  • 44
    Lang D & Epstein JA (2003) Sox10 and Pax3 physically interact to mediate activation of a conserved c-RET enhancer. Hum Mol Genet 12, 937945.
  • 45
    Chan KK, Wong CK, Lui VC, Tam PK & Sham MH (2003) Analysis of SOX10 mutations identified in Waardenburg–Hirschsprung patients: differential effects on target gene regulation. J Cell Biochem 90, 573585.
  • 46
    Attie T, Pelet A, Edery P, Eng C, Mulligan LM, Amiel J, Boutrand L, Beldjord C, Nihoul-Fekete C, Munnich A et al. (1995) Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease. Hum Mol Genet 4, 13811386.
  • 47
    Chu S & Ferro TJ (2005) Sp1: regulation of gene expression by phosphorylation. Gene 348, 111.
  • 48
    Thiesen HJ & Bach C (1991) Transition metals modulate DNA–protein interactions of SP1 zinc finger domains with its cognate target site. Biochem Biophys Res Commun 176, 551557.
  • 49
    Tachibana M, Takeda K, Nobukuni Y, Urabe K, Long JE, Meyers KA, Aaronson SA & Miki T (1996) Ectopic expression of MITF, a gene for Waardenburg syndrome type 2, converts fibroblasts to cells with melanocyte characteristics. Nat Genet 14, 5054.
  • 50
    Schreiber E, Matthias P, Müller MM & Schaffner W (1989) Rapid detection of octamer binding proteins with ‘mini-extracts’, prepared from a small number of cells. Nucleic Acids Res 17, 6419.
  • 51
    Takeda K, Yokoyama S, Yasumoto K, Saito H, Udono T, Takahashi K & Shibahara S (2003) OTX2 regulates expression of DOPAchrome tautomerase in human retinal pigment epithelium. Biochem Biophys Res Commun 300, 908914.
  • 52
    Muller RM, Taguchi H & Shibahara S (1987) Nucleotide sequence and organization of the rat heme oxygenase gene. J Biol Chem 262, 67956802.
  • 53
    Udono T, Yasumoto K, Takeda K, Amae S, Watanabe K, Saito H, Fuse N, Tachibana M, Takahashi K, Tamai M et al. (2000) Structural organization of the human microphthalmia-associated transcription factor gene containing four alternative promoters. Biochim Biophys Acta 1491, 205219.
  • 54
    Suzuki Y, Shimada J, Shudo K, Matsumura M, Crippa MP & Kojima S (1999) Physical interaction between retinoic acid receptor and Sp1: mechanism for induction of urokinase by retinoic acid. Blood 93, 42644276.
  • 55
    Takeda K, Takemoto C, Kobayashi I, Watanabe A, Nobukuni Y, Fisher DE & Tachibana M (2000) Ser298 of MITF, a mutation site in Waardenburg syndrome type 2, is a phosphorylation site with functional significance. Hum Mol Genet 9, 125132.
  • 56
    Briggs MR, Kadonaga JT, Bell SP & Tjian R (1986) Purification and biochemical characterization of the promoter-specific transcription factor, Sp1. Science 234, 4752.
  • 57
    Eberhardy SR, D'Cunha CA & Farnham PJ (2000) Direct examination of histone acetylation on Myc target genes using chromatin immunoprecipitation. J Biol Chem 275, 3379833805.