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Article

Identification of a distal enhancer for the melanocyte-specific promoter of the MITF gene.

Pigment cell research - 1 Jun 2002

Watanabe Ken-Ichi, Takeda Kazuhisa, Yasumoto Ken-Ichi, Udono Tetsuo, Saito Hideo, Ikeda Katsuhisa, Takasaka Tomonori, Takahashi Kazuhiro, Kobayashi Toshimitsu, Tachibana Masayoshi, Shibahara Shigeki

Abstract excerpt

Waardenburg syndrome (WS) is characterized by deafness and hypopigmentation because of the lack of melanocytes in the inner ear and skin. WS type 2 is associated with mutations in the gene encoding microphthalmia-associated transcription factor (MITF) that is required for melanocyte differentiation. MITF consists of multiple isoforms with different N-termini, one of which is exclusively expressed in melanocytes,...

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Source

Identifiers

PMID: 12028584
DOI: 10.1034/j.1600-0749.2002.01080.x

Genes

MITF
SOX10

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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Identification of a distal enhancer for the melanocyte-specific promoter of the MITF gene.PMID 12028584Read ↗

Microphthalmia-associated transcription factor (MITF): multiplicity in structure, function, and regulation.Semantic proximity Read ↗

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

Melanocyte-specific microphthalmia-associated transcription factor isoform activates its own gene promoter through physical interaction with lymphoid-enhancing factor 1.Semantic proximity Read ↗

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

An L1 element intronic insertion in the black-eyed white (Mitf[mi-bw]) gene: the loss of a single Mitf isoform responsible for the pigmentary defect and inner ear deafness.Semantic proximity Read ↗

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

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

A tissue-restricted cAMP transcriptional response: SOX10 modulates alpha-melanocyte-stimulating hormone-triggered expression of microphthalmia-associated transcription factor in melanocytes.Semantic proximity Read ↗

Genomic analysis of the Microphthalmia locus and identification of the MITF-J/Mitf-J isoform.Semantic proximity Read ↗

<i>Gpnmb</i> is a melanoblast‐expressed, MITF‐dependent geneSemantic proximity Read ↗

MITF: master regulator of melanocyte development and melanoma oncogene.Semantic proximity Read ↗

Genomic, transcriptional and mutational analysis of the mouse microphthalmia locus.Semantic proximity Read ↗

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