Reactome | Regulation of MITF-M-dependent genes involved in pigmentation

Regulation of MITF-M-dependent genes involved in pigmentation

Stable Identifier

R-HSA-9824585

Type

Pathway

Species

Homo sapiens

ReviewStatus

5/5

Locations in the PathwayBrowser

Expand all

General

SBML | | PDF

SVG | | PPTX | SBGN

Regulation of MITF-M-dependent genes involved in pigmentation

Click the image above or here to open this pathway in the Pathway Browser

Genes involved in pigmentation and melanocyte structure and organization were among the first identified targets of MITF. Expression of enzymes TYR, DCT and TYRP1, which work sequentially to eventually convert tyrosine into eumelanin and pheomelanin, is regulated in part by the binding of MITF to M-boxes in the promoters (Bentley et al, 1994; Bertolotto et al, 1998; Yavuzer et al, 1995; reviewed in Cheli et al, 2010; Goding and Arnheiter, 2019). MITF additionally regulates the expression of structural components of the melanosome such as MLANA, SLC24A5, SILV and GPR143, although direct binding and regulation has not been demonstrated in all cases (Du et al, 2003; Cortese et al, 2005; Schiaffino and Tacchetti, 2005; reviewed in Cheli et al, 2010; Goding and Arnheiter, 2019). Genes encoding RAB27A and MYO5A, which regulate the localization and trafficking of melanosomes, are also targets of MITF (Chiaverini et al, 2008; Alves et al, 2017; reviewed in Cheli et al, 2010; Goding and Arnheiter, 2019).

Literature References

PubMed ID	Title	Journal	Year
9447965	Different cis-acting elements are involved in the regulation of TRP1 and TRP2 promoter activities by cyclic AMP: pivotal role of M boxes (GTCATGTGCT) and of microphthalmia Abbe, P, Bille, K, Ballotti, R, Bertolotto, C, Ortonne, JP, Buscà, R, Aberdam, E	Mol Cell Biol	1998
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
18281284	Microphthalmia-associated transcription factor regulates RAB27A gene expression and controls melanosome transport Bertolotto, C, Bille, K, Abbe, P, Beuret, L, Busca, R, Flori, E, Chiaverini, C, Ballotti, R, Bahadoran, P, Ortonne, JP	J Biol Chem	2008
31123060	MITF-the first 25 years Arnheiter, H, Goding, CR	Genes Dev	2019
27939378	MYO5A Gene Is a Target of MITF in Melanocytes Alves, CP, Yokoyama, S, Sousa, JF, Goedert, L, Fisher, DE, Pontes, CLS, Espreafico, EM	J Invest Dermatol	2017
19995375	Fifteen-year quest for microphthalmia-associated transcription factor target genes Bertolotto, C, Cheli, Y, Ohanna, M, Ballotti, R	Pigment Cell Melanoma Res	2010
16303920	The ocular albinism type 1 (OA1) gene controls melanosome maturation and size Giordano, F, Surace, EM, Cortese, K, Ballabio, A, Tacchetti, C, Venturi, C, Marigo, V	Invest Ophthalmol Vis Sci	2005
7824265	The Microphthalmia gene product interacts with the retinoblastoma protein in vitro and is a target for deregulation of melanocyte-specific transcription Vachtenheim, J, Currie, G, Keenan, E, Goding, CR, Lowings, P, Yavuzer, U	Oncogene	1995
16029416	The ocular albinism type 1 (OA1) protein and the evidence for an intracellular signal transduction system involved in melanosome biogenesis Schiaffino, MV, Tacchetti, C	Pigment Cell Res.	2005
7969139	Melanocyte-specific expression of the human tyrosinase promoter: activation by the microphthalmia gene product and role of the initiator Eisen, T, Bentley, NJ, Goding, CR	Mol Cell Biol	1994