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Article

Transcription factor hierarchy in Waardenburg syndrome: regulation of MITF expression by SOX10 and PAX3.

Human genetics - 1 Jul 2000

Potterf S B, Furumura M, Dunn K J, Arnheiter H, Pavan W J

Abstract excerpt

Waardenburg syndrome (WS) is associated with neural crest-derived melanocyte deficiency caused by mutations in either one of three transcription factors: MITF, PAX3, and SOX10. However, the hierarchical relationship of these transcription factors is largely unknown. We show that SOX10 is capable of transactivating the MITF promoter 100-fold, and that this transactivation is further stimulated by PAX3. Promoter...

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Source

Identifiers

PMID: 10982026
DOI: 10.1007/s004390000328

Genes

MITF
SOX10
PAX3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Click a neighbor to travelStep 1 · 12 closest

Transcription factor hierarchy in Waardenburg syndrome: regulation of MITF expression by SOX10 and PAX3.PMID 10982026Read ↗

Regulation of the microphthalmia-associated transcription factor gene by the Waardenburg syndrome type 4 gene, SOX10.Semantic proximity Read ↗

Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome.Semantic proximity Read ↗

Two novel mutations of PAX3 and SOX10 were characterized as genetic causes of Waardenburg Syndrome.Semantic proximity Read ↗

Functional analysis of Waardenburg syndrome-associated PAX3 and SOX10 mutations: report of a dominant-negative SOX10 mutation in Waardenburg syndrome type II.Semantic proximity Read ↗

Functional analysis of a SOX10 gene mutation associated with Waardenburg syndrome II.Semantic proximity Read ↗

Transcriptional regulation of mitfa accounts for the sox10 requirement in zebrafish melanophore development.Semantic proximity Read ↗

Epistatic relationship between Waardenburg syndrome genes MITF and PAX3.Semantic proximity Read ↗

Identification of a distal enhancer for the melanocyte-specific promoter of the MITF gene.Semantic proximity Read ↗

Double heterozygous mutations of MITF and PAX3 result in Waardenburg syndrome with increased penetrance in pigmentary defects.Semantic proximity Read ↗

The MADS box transcription factor MEF2C regulates melanocyte development and is a direct transcriptional target and partner of SOX10Semantic proximity Read ↗

Functional difference of the SOX10 mutant proteins responsible for the phenotypic variability in auditory-pigmentary disorders.Semantic proximity Read ↗

Beyond MITF: Multiple transcription factors directly regulate the cellular phenotype in melanocytes and melanoma.Semantic proximity Read ↗

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