Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome

Human Molecular Genetics

Volumn 9, Issue 13, 2000, Pages 1907-1917

  Bondurand, Nadege ^a   Pingault, Veronique ^a   Goerich, Derk E ^b   Lemort, Nicole ^a   Sock, Elisabeth ^b   Le Caignec, Cedric ^a   Wegner, Michael ^b   Goossens, Michel ^a  

^a HENRI MONDOR HOSPITAL   (France)

^b UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

DNA BINDING PROTEIN; ENDOTHELIN 3; ENDOTHELIN B RECEPTOR; HELIX LOOP HELIX PROTEIN; HOMEODOMAIN PROTEIN; LEUCINE ZIPPER PROTEIN; LIGAND; MUTANT PROTEIN; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR MITF; TRANSCRIPTION FACTOR PAX3; TRANSCRIPTION FACTOR SOX10; UNCLASSIFIED DRUG;

ANIMAL TISSUE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BINDING SITE; CELL MATURATION; CELL SURVIVAL; CONTROLLED STUDY; DISEASE CLASSIFICATION; EMBRYO; GENE EXPRESSION; GENE EXPRESSION REGULATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC TRANSFECTION; HUMAN; HUMAN CELL; IN SITU HYBRIDIZATION; IN VITRO STUDY; INCIDENCE; MEGACOLON; MELANOCYTE; MICROPHTHALMIA; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; PERCEPTION DEAFNESS; PHENOTYPE; PIGMENT DISORDER; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN BINDING; PROTEIN INTERACTION; WAARDENBURG SYNDROME;

ANIMALIA;

EID: 0034641596     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/9.13.1907     Document Type: Article

References (49)

1. Waardenburg syndrome
2. An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome
3. Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene
4. Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type 1 (WS-I)
5. Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene
6. A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease
7. Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung phenotype (Shah-Waardenburg syndrome)
8. A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome)
9. SOX10 mutations in patients with Waardenburg-Hirschsprung disease
10. A helix-loop-helix transcription factor-like gene is located at the mi locus
11. Mutations at the mouse microphthalmia locus are associated with defects in a gene encoding a novel basic-helix-loop-helix-zipper protein
12. Insight into the microphthalmia gene
13. Microphthalmia-associated transcription factor as a regulator for melanocyte-specific transcription of the human tyrosinase gene
14. Melanocyte-specific expression of the human tyrosinase promoter: Activation by the microphthalmia gene product and role of the initiator
15. Functional analysis of microphthalmia-associated transcription factor in pigment cell-specific transcription of the human tyrosinase family genes
16. Regulation of tyrosinase gene expression by cAMP in B16 melanoma cells involves two CATGTG motifs surrounding the TATA box: Implication of the microphthalmia gene product
17. Different cis-acting elements are involved in the regulation of TRP1 and TRP2 promoter activities by cyclic AMP: Pivotal role of M boxes (GTCATGTGCT) and of microphthalmia
18. Targeting the microphthalmia basic helix-loop-helix-leucine zipper transcription factor to a subset of E-box elements in vitro and in vivo
19. Pax-3, a novel murine DNA binding protein expressed during early neurogenesis
20. Epistatic relationship between Waardenburg syndrome genes MITF and PAX3
21. Pax3 and regulation of the melanocyte-specific tyrosinase-related protein-1 promoter
22. Sox10, a novel transcriptional modulator in glial cells
23. Sox genes find their feet
24. From head to toes: The multiple facets of Sox proteins
25. Sox10 mutation disrupts neural crest development in Dom Hirschsprung mouse model
26. Expression of the SOX10 gene during human development
27. Mutation of the Sry-related Sox10 gene in Dominant megacolon, a mouse model for human Hirschsprung disease
28. Association of megacolon with a new dominant spotting gene (Dom) in the mouse
29. Another role for melanocytes: Their importance for normal stria vascularis development in the mammalian inner ear
30. Identification of a melanocyte-type promoter of the microphthalmia-associated transcription factor gene
31. Definition of a consensus DNA binding site for SRY
32. The DNA-binding specificity of SOX9 and other SOX proteins
33. Protein zero gene expression is regulated by the glial transcription factor Sox10
34. Three high mobility group-like sequences within a 48-base pair enhancer of the Col2a1 gene are required for cartilage-specific expression in vivo
35. Identification of a new binding motif for the paired domain of Pax-3 and unusual characteristics of spacing of bipartite recognition elements on binding and transcription activation
36. Mutations in PAX3 that cause Waardenburg syndrome type I: Ten new mutations and review of the literature
37. Identification of two PAX3 mutations causing Waardenburg syndrome, one within the paired domain (M62V) and the other downstream of the homeodomain (Q282X)
38. The Sox10(Dom) mouse: Modeling the genetic variation of Waardenburg-Shah (WS4) syndrome
39. Myelin deficiencies in both the central and the peripheral nervous systems associated with a SOX10 mutation
40. Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain
41. Microphthalmia gene product as a signal transducer in cAMP-induced differentiation of melanocytes
42. Pairing SOX off: With partners in the regulation of embryonic development
43. Functional analysis of Sox10 mutations found in human Waardenburg-Hirschsprung patients
44. Direct regulation of nacre, a zebrafish MITF homolog required for pigment cell formation, by the Wnt pathway
45. Induction of melanocyte-specific microphthalmia-associated transcription factor by Wnt-3a
46. Replacement of insulin receptor tyrosine residues 1162 and 1163 compromises insulin-stimulated kinase activity and uptake of 2-deoxyglucose
47. Melanocyte development in vivo and in neural crest cell cultures: Crucial dependence on the Mitf basic-helix-loop-helix-zipper transcription factor
48. Primary structure of c-kit: Relationship with the CSF-1/PDGF receptor kinase family-oncogenic activation of v-kit involves deletion of extracellular domain and C terminus