BACKGROUND The melanocortin-1 receptor (MC1R) is an important risk factor for melanoma due to its role in the production of melanin in response to sun exposure. OBJECTIVES To analyze the phenotypic and histologic characteristics of cutaneous melanoma in patients carrying mutations in MC1R and assess the influence of sun exposure on the occurrence of melanoma. MATERIAL AND METHODS A total of...

Mutations in the exons of the cyclin-dependent kinase inhibitor gene CDKN2A are melanoma-predisposition alleles which have high penetrance, although they have low population frequencies. In contrast, variants of the melanocortin-1 receptor gene, MC1R, confer much lower melanoma risk but are common in European populations. Fifteen Australian CDKN2A mutation-carrying melanoma pedigrees were asses...

the melanocortin-1 receptor mc1r is encoded by the extension locus, playing a fundamental role in the determination of coat color in a number of mammalian species. however, so far there has been no report regarding the single nucleotide polymorphisms (snps) of the mc1r promoter region and the potential association of its snps with coat color in sheep (ovis aries). throughout the present study, ...

Melanoma risk is increased in patients with mutations of melanocortin 1 receptor (MC1R) yet the basis for the increased risk remains unknown. Here we report in vivo evidence supporting a critical role for MC1R in regulating melanoma tumor growth and determining overall survival time. Inhibition of MC1R by its physiologically relevant competitive inhibitor, agouti signaling protein (ASIP), reduc...

BACKGROUND The melanocortin 1 receptor (MC1R) constitutes a key regulator of melanism. Consequently, many naturally-occurring MC1R mutations are associated with a change in color. An example is the Glu-to-Lys substitution found at position II:20/2.60 in the top of transmembrane helix II which has been identified in melanic mice and several other species. This mutation induces a pronounced incre...

The tyrosinase (TYR) and melanocortin 1 receptor (MC1R) genes have been accepted as major genes involved in the plumage pigmentation of chickens. The co-segregation of plumage coloration and sequence polymorphism in TYR and MC1R genes were investigated using an intercross between black and white plumage color types of the Dongxiang blue-shelled chicken. Profiles of plumage color changing and ge...

ABSTR ACT: The highly polymorphic melanocortin 1 receptor (MC1R) gene plays a crucial role in pigmentation. Variants of the gene have been implicated in risk of cutaneous squamous cell carcinoma (SCC) in the general population. In renal transplant (RT) recipients these cancers are more aggressive and very common. To evaluate the risk of SCC relative to MC1R and the pigmentation-associated genes...

Melanocortin therapy by using adrenocorticotropic hormone (ACTH) or non-steroidogenic melanocortin peptides attenuates proteinuria and glomerular injury in experimental glomerular diseases and induces remission of nephrotic syndrome in patients with diverse glomerulopathies, even those resistant to steroids. The underlying mechanism remains elusive, but the role of melanocortin 1 receptor (MC1R...

Sequence variations in the melanocortin-1 receptor (MC1R) gene are associated with melanism in many different species of mammals, birds and reptiles. The grey squirrel (Sciurus carolinensis), found in the British Isles, was introduced from North America in the late nineteenth century. Melanism in the British grey squirrel is associated with a 24 base pair deletion in the MC1R. To investigate th...

The genetic determinants of post-burn hypertrophic scarring (HTS) are unknown, and melanocortin 1 receptor (MC1R) loss-of-function leads to fibrogenesis in experimental models. To examine the associations between self-identified race and MC1R single-nucleotide polymorphisms (SNPs) with severity of post-burn HTS, we conducted a prospective cohort study of burned adults admitted to our institutio...