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Article

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

The Journal of biological chemistry - 6 Oct 2000

Verastegui C, Bille K, Ortonne J P, Ballotti R

Abstract excerpt

The absence of melanocytes from the cochlea and epidermis is responsible of deafness and hypopigmentation, two symptoms shared by the four Waardenburg syndrome (WS) subtypes. Microphthalmia-associated transcription factor (MITF) controls melanocyte survival and differentiation. Mutations, which impair MITF function or expression, result in an abnormal melanocyte development leading to the WS2. WS1 and WS3 are...

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Source

Identifiers

PMID: 10938265
DOI: 10.1074/jbc.C000445200

Genes

MITF
SOX10
SRY

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Regulation of the microphthalmia-associated transcription factor gene by the Waardenburg syndrome type 4 gene, SOX10.PMID 10938265Read ↗

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

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

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

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

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

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

Identification of six novel variants in Waardenburg syndrome type II by next-generation sequencing.Semantic proximity Read ↗

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

A novel frameshift mutation in SOX10 causes Waardenburg syndrome with peripheral demyelinating neuropathy, visual impairment and the absence of Hirschsprung disease.Semantic proximity Read ↗

Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4.Semantic proximity Read ↗

A Novel Mutation of the SOX10 Gene Associated with Waardenburg Syndrome Type IVSemantic proximity Read ↗

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