Mutations in microphthalmia, the mouse homolog of the human deafness gene MITF, affect neuroepithelial and neural crest-derived melanocytes differently

Nakayama, Atsuo; Nguyen, Minh‐Thanh; Chen, Catherine C; Opdecamp, Karin; Hodgkinson, Colin A.; Arnheiter, Heinz

doi:10.1016/s0925-4773(97)00188-3

Cited by 200 publications

(187 citation statements)

References 33 publications

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“…Baxter et al reported that SLC45A2 is expressed in pigment precursor cells during embryonic development and that its protein expression pattern is similar to those of the melanin-producing enzyme dopachrome tautomerase (DCT) and tyrosinase-related protein 1 (TYRP1), suggesting that this gene is like-wise dependent on microphthalmia-associated transcription factor (MITF), as in the retinal pigment epithelium [18]. However, the expression of SLC45A2 in early neural crest-derived melanocytes is similar to that of DCT, but not TYR or TYRP1 [19]. SLC45A2 has thus served as new marker of the migratory melanoblast population, which previously could only be identified by the co-expression of DCT, MITF and KIT.…”

Section: Slc45a2 Was Originally Identified As An Antigen Recognized Bmentioning

confidence: 99%

Distribution and expression of SLC45A2 in the skin of sheep with different coat colors

Wang

et al. 2016

Folia Histochem Cytobiol.

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Introduction. To investigate whether the membrane-associated transporter protein SLC45A2 is differentially expressed in the skin of sheep with different coat colors and to determine its correlation with coat color establishment in sheep. Material and methods. The expression of SLC45A2 in sheep skin samples with different coat colors was qualitatively and quantitatively analyzed by PCR amplification, RT-PCR, immunohistochemical staining and Western blotting. Results. A 193-bp SLC45A2 CDS sequence was successfully amplified from sheep skin samples with diverse coat colors. RT-PCR analysis revealed that SLC45A2 mRNA was expressed in all sheep skin samples tested, with relative expression levels of 512.74 ± 121.51 in black skin, 143.38 ± 119.31 and 1.36 ± 0.09 in black dots and white dots of piebald skin, respectively, and 1.02 ± 0.23 in white skin (p < 0.01**). Positive SLC45A2 protein bands were also detected in all skin samples by Western blot analysis, with relative expression levels of 0.85 ± ± 0.17** in black skin, 0.60 ± 0.05** and 0.34 ± 0.07 in black dots and white dots of piebald skin, respectively, and 0.20 ± 0.05 in white skin (p < 0.01**). Immunohistochemical assays revealed that SLC45A2 was expressed in the hair follicle matrix, the inner and outer root sheath, and the dermal papilla in the skin tissues with different coat colors. These patterns were quantified by optical density (OD) analysis, which yielded relative expression levels of 0.23 ± 0.11 in black skin, 0.19 ± 0.09 and 0.10 ± 0.03 in black dots and white dots of piebald skin, respectively, and 0.08 ± 0.01 in white skin (p < 0.05*). Conclusion. SLC45A2 is detectably expressed in sheep skin of all coat colors, though at significantly different levels. SLC45A2 may participate in the establishment of coat color by regulating the synthesis and trafficking of melanin.

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Section: Slc45a2 Was Originally Identified As An Antigen Recognized Bmentioning

confidence: 99%

Distribution and expression of SLC45A2 in the skin of sheep with different coat colors

Wang

et al. 2016

Folia Histochem Cytobiol.

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“…In the mouse, MITF mutations result in a reduction of absolute numbers of melanocyte precursor cells (Hornyak et al, 2001). In contrast, retinal pigment epithelial cells (RPE) that are not neural crest in origin survive severe MITF mutations (Nakayama et al, 1998), albeit without pigment and with evidence of hyperproliferation and neuroretinal transdifferentiation.…”

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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“…Disruption of either gene or their upstream regulator ␤-catenin in mouse RPE results in transdifferentiation of the RPE into neural retina-like tissues (12)(13)(14). The critical role of OTX2 in RPE development is well documented (12,15).…”

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confidence: 99%

Transcription Factor SOX9 Plays a Key Role in the Regulation of Visual Cycle Gene Expression in the Retinal Pigment Epithelium

Masuda

Wahlin

Wan

et al. 2014

Journal of Biological Chemistry

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Mutations in microphthalmia, the mouse homolog of the human deafness gene MITF, affect neuroepithelial and neural crest-derived melanocytes differently

Cited by 200 publications

References 33 publications

Distribution and expression of SLC45A2 in the skin of sheep with different coat colors

Distribution and expression of SLC45A2 in the skin of sheep with different coat colors

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

Transcription Factor SOX9 Plays a Key Role in the Regulation of Visual Cycle Gene Expression in the Retinal Pigment Epithelium

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