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These data clearly show a new and hitherto unsuspected role for MC1R in noncutaneous solid tissues before birth.
In both melanoma cell lines, alphaMSH (show POMC Proteins) determined the reduction of proliferation through the PI(4,5)P2/PLC (show HSPG2 Proteins) pathway, employing PPARgamma (show PPARG Proteins) as an effector element. These evidence could offer perspectives for new therapeutic approaches for melanoma.
Carriage of any MC1R variant, one variant and two or more variants, compared with not having such variants was significantly associated with fair hair color, skin type I/II, and presence of freckles.
key molecular events driving MC1R-mediated enhancement of genome maintenance and MC1R-induced pigment induction in melanocytes are distinct
amino acid residue 128 in Transmembrane 3 (TM3 (show TPM1 Proteins)) of MC1R, or amino acid residue L133 in TM3 (show TPM1 Proteins) of the MC4R (show MC4R Proteins), play crucial roles in ligand des (show DES Proteins)-Trp (show TBPL1 Proteins)(9)-NDP (show NDP Proteins)-alpha-MSH selectivity at MC1R or MC4R (show MC4R Proteins).
In a heterologous expression system, MC1R-dependent Arrestins B ubiquitination was enhanced by overexpression of MGRN1 (show MGRN1 Proteins) and was impaired by siRNA-mediated MGRN1 (show MGRN1 Proteins) knockdown thus pointing to MGRN1 (show MGRN1 Proteins) as the responsible E3-ligase.
POMC (show POMC Proteins) and MC1R were significantly lower in vitiligo (show MITF Proteins) lesional skin than in non-lesional skin as well as in controls and they were significantly higher in non-lesional skin than in the skin of the controls.
MC1R gene could modify the age of onset in Spanish Huntington's disease patients.
results highlight a central role for MC1R palmitoylation in pigmentation and protection against melanoma
MC1R variant p.V92M (rs2228479) was present in 72 (14%) patients and 15 (9%) controls and confers increased risk of developing late-onset Alzheimer's disease, especially in those patients whose genetic risk could not be explained by APOE (show APOE Proteins) genotype. This association remains and even increased in the subset of 69 patients with typical AD cerebrospinal fluid profile. No association was found between p.V92M and age of onset.
Collectively, our findings suggest that melanocortin therapy confers a proteinuria reducing and podoprotective effect in proteinuric glomerulopathies via MC1R-independent mechanisms.
We conclude that MC1R plays an important role in regulating melanoma growth and morphology
Activation of Mc1r prevents cholesterol uptake and confers protection against macrophage foam cell formation.
MC1-mediated effects were reduced, and MC3 (show MC3R Proteins) anti-inflammatory circuits predominated. Mice bearing a nonfunctional MC1 displayed a transient exacerbation of neutrophil recruitment after global I/R, which diminished by 2 hours.
A melanin-independent interaction between Mc1r and Met signaling pathways is required for hepatocyte growth factor (show HGF Proteins)-dependent melanoma.
In summary, we have identified a new alpha-MSH-MC1R physiologic pathway that reduces HO-induced RPE (show RPE Proteins) cell damage, and might minimize the risk of developing AMD (show AMD1 Proteins).
Absence of Mc1r does not impair the inflammatory response to UV radiation or the generation of immunosuppression.
MC1R decrease the inflammation in vitro and vivo, and might be part of a signaling pathway in inflammatory diseases.
The e and E+ are the main MC1R haplotypes in taurine or intermediate breeds from China. The haplotypes defined by c.416C>T, c.583C>T and c.890T>C, found mostly in China and Bangladesh, are the typical haplotypes of Bos indicus.
Recombinants in a 5 Mb region surrounding the cluster of tyrosine kinase receptor genes implicated PDGFRA as the strongest positional candidate gene interacting with MC1R and modifying black coat color in an F Nellore-Angus population.
Six solid colors occur in Highland cattle: black, dun, silver dun and red, yellow, and white. These six coat colors are explained by a non-epistatic interaction of the genotypes at the MC1R and PMEL (show PMEL Proteins) genes.
the relationship of polymorphism of the MC1R with coat colour
In China Holstein Black-white Cattle, China Holstein Red-white Cattle, Luxi Yellow Cattle and Bohai Black Cattle, three alleles (ED, E+ and e) in MC1R were identified and important SNP at 725 position of the MC1R coding region was found.
Sequence analysis revealed variation in the TYRP1 (exon 5) and MC1R genes; restriction enzyme analysis of these two genes could distinguish between different colours of Hanwoo cattle.
The MC1R gene, located on porcine chromosome 6, is responsible for the Extension coat color locus in Sus scrofa.
Melanocortin receptor 1 gene was not the principal factor affecting the coat color differences of Chinese native pig breeds, but could be used to trace the molecular evolution of pig breeds
Mutational analysis of the MC1R loci in relation to coat color.
Variations in the MC1R gene are associated with coat color.
The Chinese Rongchang pig has the dominant black E(D1) allele at the melanocortin 1 receptor (MC1R) locus.
no significant relationship with behavior at the MC1R locus
This intronless gene encodes the receptor protein for melanocyte-stimulating hormone (MSH). The encoded protein, a seven pass transmembrane G protein coupled receptor, controls melanogenesis. Two types of melanin exist: red pheomelanin and black eumelanin. Gene mutations that lead to a loss in function are associated with increased pheomelanin production, which leads to lighter skin and hair color. Eumelanin is photoprotective but pheomelanin may contribute to UV-induced skin damage by generating free radicals upon UV radiation. Binding of MSH to its receptor activates the receptor and stimulates eumelanin synthesis. This receptor is a major determining factor in sun sensitivity and is a genetic risk factor for melanoma and non-melanoma skin cancer. Over 30 variant alleles have been identified which correlate with skin and hair color, providing evidence that this gene is an important component in determining normal human pigment variation.
, melanocyte-stimulating hormone receptor
, melanotropin receptor
, extension recessive yellow
, melanocortin receptor 1
, melanocortin-1 receptor
, tobacco darkening
, alpha melanocyte stimulating hormone receptor
, melanocortin 1-receptor
, melanocyte stimulating hormone receptor
, melanocortin 1 receptor
, Melanotropin receptor
, Melanocortin receptor 1
, Melanocyte-stimulating hormone receptor
, tubulin, beta 3 class III