MITF-M-dependent PMEL gene expression

Stable Identifier
R-HSA-9825846
Type
Reaction [omitted]
Species
Homo sapiens
Compartment
nucleoplasm, melanosome membrane
ReviewStatus
5/5
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MITF-M-dependent PMEL gene expression
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PMEL is a protein component of the melanosome that forms fibrils on which melanin is synthesized and accumulates (reviewed in Bissig et al, 2016). Another melanosome-specific protein MLANA plays a role in the maturation and stabilization of PMEL (Hoashi et al, 2005; Ho et al, 2016; reviewed in Bissig et al, 2016). Both PMEL and MLANA are direct transcriptional targets of MITF-M as assessed by ChIP, EMSA and reporter gene and Northern analysis (Du et al, 2003; Baxter and Pavan, 2003; Strub et al, 2011; reviewed in Cheli et al, 2010; Goding and Arnheiter, 2019).
Literature References
PubMed ID Title Journal Year
27589732 PMEL Amyloid Fibril Formation: The Bright Steps of Pigmentation

Bissig, C, van Niel, G, Rochin, L

Int J Mol Sci 2016
14643677 Pmel17 expression is Mitf-dependent and reveals cranial melanoblast migration during murine development

Pavan, WJ, Baxter, LL

Gene Expr Patterns 2003
21258399 Essential role of microphthalmia transcription factor for DNA replication, mitosis and genomic stability in melanoma

Ye, T, Cormont, M, Keime, C, Kobi, D, Davidson, I, Le Gras, S, Giuliano, S, Bonet, C, Bertolotto, C, Ballotti, R, Strub, T

Oncogene 2011
26694611 The Kringle-like Domain Facilitates Post-endoplasmic Reticulum Changes to Premelanosome Protein (PMEL) Oligomerization and Disulfide Bond Configuration and Promotes Amyloid Formation

Ho, T, Seeholzer, SH, Watt, B, Marks, MS, Spruce, LA

J Biol Chem 2016
19995375 Fifteen-year quest for microphthalmia-associated transcription factor target genes

Bertolotto, C, Cheli, Y, Ohanna, M, Ballotti, R

Pigment Cell Melanoma Res 2010
31123060 MITF-the first 25 years

Arnheiter, H, Goding, CR

Genes Dev 2019
15695812 MART-1 is required for the function of the melanosomal matrix protein PMEL17/GP100 and the maturation of melanosomes

Yamaguchi, Y, Vieira, WD, Watabe, H, Hoashi, T, Hearing, VJ, Muller, J

J Biol Chem 2005
12819038 MLANA/MART1 and SILV/PMEL17/GP100 are transcriptionally regulated by MITF in melanocytes and melanoma

Widlund, HR, Fisher, DE, Ramaswamy, S, Horstmann, MA, Miller, AJ, Du, J

Am J Pathol 2003
Participants
Input
Output
Participates
as an event of
This event is regulated
Positively by
Regulator
MITF-M dimer:PMEL gene [nucleoplasm] (Homo sapiens)
Active Unit
MITF-M dimer [nucleoplasm]
Authored
Rothfels, K  (2023-01-26)
Reviewed
de la Serna, IL  (2024-05-21)
Arnheiter, H  (2024-02-26)
Steingrímsson, E  (2024-11-05)
Vu, HN  (2024-11-05)
Created
Rothfels, K  (2023-01-27)
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