Direct Regulation of the Microphthalmia Promoter by Sox10 Links Waardenburg-Shah Syndrome (WS4)-associated Hypopigmentation and Deafness to WS2

Lee, Melanie; Goodall, Jane; Verastegui, Carole; Ballotti, Robert; Goding, Colin R.

doi:10.1074/jbc.m003816200

Cited by 156 publications

(161 citation statements)

References 39 publications

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“…The B16/F10.9 cells express endogenous Sox10, an HMG factor found to be important in both melanocytic (45)(46)(47)(48) and SC differentiation (15,16,49). An increase in Sox10 RNA was observed by RT-PCR with RNA extracted 72 h after IL6RIL6 addition to the cells (Fig.…”

Section: Transcriptional Activation Of Myelin Po and Mbp Gene Promotementioning

confidence: 99%

Activation of Myelin Genes during Transdifferentiation from Melanoma to Glial Cell Phenotype

Slutsky

Kamaraju

Levy

et al. 2003

Journal of Biological Chemistry

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Section: Transcriptional Activation Of Myelin Po and Mbp Gene Promotementioning

confidence: 99%

Activation of Myelin Genes during Transdifferentiation from Melanoma to Glial Cell Phenotype

Slutsky

Kamaraju

Levy

et al. 2003

Journal of Biological Chemistry

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“…The brachyury-related transcription factor, Tbx2, binds to the MSEu and MSEi elements of Tyrp1 and down-regulates Tyrp1 expression (33). Sox10, a SRY-related transcription factor, is involved in the transactivation of the Mitf promoter, which in turn binds the M-box resulting in increased Tyrp1 promoter activity (34,35). Therefore, there exists a complex regulation of Tyrp1 expression.…”

Section: Tyrp1 Its Genetic Structurementioning

confidence: 99%

Tyrp1 and Oculocutaneous Albinism Type 3

Sarangarajan

Boissy

2001

Pigment Cell Research

113

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addition to its role in eumelanin synthesis, Tyrp1 is involved in Tyrosinase-related protein 1 (Tyrp1) is a melanocyte-specific maintaining stability of tyrosinase protein and modulating its gene product involved in eumelanin synthesis. Mutations in the catalytic activity. Tyrp1 is also involved in maintenance of mouse Tyrp1 gene are associated with brown pelage, and in the human TYRP1 gene with oculocutaneous albinism type 3 melanosome ultrastructure and affects melanocyte prolifera-(OCA3). In the murine system, Tyrp1 expresses significant tion and melanocyte cell death. The current review is an dihydroxyindole carboxylic acid oxidase (i.e. DHICA oxattempt to consolidate our understanding of the role of Tyrp1 idase) activity. However, in humans, TYRP1 is enigmatic in in the melanocyte. that despite extensive efforts focused on the study of its Key words: Pigmentation, Tyrosine hydroxylase, Brown/Rufunction, its actual role in the human melanocyte is still fous Albinism, Brown locus, Protein trafficking unclear. There is mounting evidence demonstrating that in Mutations in the genes encoding some of the enzymes and regulatory proteins involved in melanin synthesis result in various forms of oculocutaneous albinism (OCA). OCA1 correlates with mutations in the tyrosinase (TYR) gene (7). Most individuals with OCA1 have completely amelanotic skin, hair and eyes with the inability to tan (i.e. OCA1A). However, some nucleotide lesions of the TYR gene result in a partially functional enzyme so that individuals with this subtype of OCA1 can exhibit moderate levels of skin and hair pigmentation and the ability to tan (i.e. OCA1B). OCA2 correlates with mutations in the P gene (8). Individuals with OCA2 present with minimal to moderate amounts of pigment remaining in the skin, hair and eyes, many of whom can develop pigmented freckles, lentigines and/or nevi with age. OCA3 correlates with mutations in the TYRP1 gene (9). Individuals with OCA3 present with minimal pigment reduction in the skin, hair and eyes. This form of albinism was previously referred to as Rufous and possibly some forms of Brown albinism.

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“…The PAX3 and SOX10 genes (Watanabe et al, 1998;Bondurand et al, 2000;Lee et al, 2000;Potterf et al, 2000;Verastegui et al, 2000) as well the Wnt-signaling pathway (Dorsky et al, 2000;Takeda et al, 2000b) potently activate the MITF-M promoter. These factors transactivate the MITF-M promoter/enhancer in a manner that may involve formation of coordinated transcriptional complexes, although the nature of such interactions is incompletely understood (Figure 2).…”

Section: Mitf-m Is Critical For the Melanocyte Fate In The Neural Crementioning

confidence: 99%

Microphthalamia-associated transcription factor: a critical regulator of pigment cell development and survival

2003

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The microphthalamia-associated transcription factor (MITF) is an integral transcriptional regulator in melanocyte, the lineage from which melanoma cells originate. This basic-helix-loop-helix-leucine-zipper (bHLHzip) protein is critical for melanocyte cell-fate choice during commitment from pluripotent precursor cells in the neural crest. Its role in differentiation pathways has been highlighted by its potent transcriptional and lineage-specific regulation of the three major pigment enzymes: tyrosinase, Tyrp1, and Dct as well as other pigmentation factors. However, the cellular functions of MITF seem to be wider than differentiation and cell-fate pathways alone, since melanocytes and melanoma cells appear to require an expression of this factor. Here, we discuss the transcriptional networks in which MITF is thought to reside and describe signaling pathways in the cell which impinge on MITF. Accumulating evidence supports the notion that MITF is involved in survival pathways during normal development as well as during neoplastic growth of melanoma.

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Direct Regulation of the Microphthalmia Promoter by Sox10 Links Waardenburg-Shah Syndrome (WS4)-associated Hypopigmentation and Deafness to WS2

Cited by 156 publications

References 39 publications

Activation of Myelin Genes during Transdifferentiation from Melanoma to Glial Cell Phenotype

Activation of Myelin Genes during Transdifferentiation from Melanoma to Glial Cell Phenotype

Tyrp1 and Oculocutaneous Albinism Type 3

Microphthalamia-associated transcription factor: a critical regulator of pigment cell development and survival

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