MC1R CpG island regulates MC1R expression and is methylated in a subset of melanoma tumours

Title: MC1R CpG island regulates MC1R expression and is methylated in a subset of melanoma tumours
Creator: Budden, Timothy; Bowden, Nikola A.
Relation: Pigment Cell & Melanoma Research Vol. 32, Issue 2, p. 320-325
Publisher Link: http://dx.doi.org/10.1111/pcmr.12739
Publisher: Wiley-Blackwell
Resource Type: journal article
Date: 2019
Description: Melanocortin 1 receptor (MC1R) is a G protein‐coupled receptor expressed in melanocytes where it plays an important role in skin pigmentation and in the UV response, and has implications in melanoma development. Here we show that methylation of a CpG island (CGI) within the MC1R gene can control expression of MC1R in melanoma. This CGI overlaps with a potential enhancer region, and is unmethylated in normal melanocytes but highly methylated in other skin cells, suggesting a melanocyte specific function. Analysis showed that MC1R was the only gene significantly differentially expressed by methylation of this region. Within several data sets, this region is methylated in a subset of melanoma tumours (55%–74% of tumours) and results in reduced MC1R expression and significantly longer overall survival.
Subject: CpG island; MC1R; melanoma; methylation; survival; SDG 3; Sustainable Development Goals
Identifier: http://hdl.handle.net/1959.13/1468712
Identifier: uon:48085
Identifier: ISSN:1755-1471
Language: eng
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