MC1R
Overview
MC1R (Melanocortin 1 Receptor) is a G-protein coupled receptor expressed on melanocytes that regulates pigmentation by controlling eumelanin vs. phaeomelanin production in response to melanocyte-stimulating hormone (MSH). MC1R variants are strongly associated with red hair, fair skin, and increased melanoma risk. In normal skin cell-atlas studies, MC1R is a transcriptomic marker of the UV-exposed, differentiated (HighMut) melanocyte subpopulation.
Alterations observed in the corpus
- MC1R is differentially upregulated in HighMut (UV-exposed, high-mutational-burden) melanocytes relative to LowMut (stem-like/neural-crest) melanocytes in normal human skin; assigned to the pigmentation/metabolism functional cluster alongside HMOX1 and ABCC2. Identified by DESeq2 differential expression (BH-adjusted p<0.10, log2FC>0) across 297 single melanocytes from 31 donors. No somatic mutations in MC1R are reported as study endpoints. PMID:39975212
Cancer types (linked)
- No direct cancer-type driver role reported in the corpus. MC1R expression is studied in non-lesional skin adjacent to melanoma as a marker of the UV-differentiated melanocyte state relevant to melanoma initiation hypotheses. PMID:39975212
Co-occurrence and mutual exclusivity
Therapeutic relevance
- No direct therapeutic relevance reported in the corpus. MC1R’s role in pigmentation biology is relevant to melanoma risk stratification but no MC1R-targeted therapy is discussed.
Open questions
- Whether MC1R upregulation in HighMut melanocytes reflects adaptive pigmentation in response to UV damage or constitutive expression of the differentiated melanocyte state is not resolved. PMID:39975212
- The impact of known MC1R germline risk variants (e.g., R151C, R160W) on HighMut vs LowMut melanocyte proportions within individual donors was not assessed. PMID:39975212
Sources
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