Results 141 to 150 of about 9,263 (182)

Red hair is the null phenotype of MC1R

Human Mutation, 2008
The Melanocortin-1 Receptor (MC1R) is a G-protein coupled receptor, which is responsible for production of the darker eumelanin pigment and the tanning response. The MC1R gene has many polymorphisms, some of which have been linked to variation in pigmentation phenotypes within human populations.
David L Duffy, Kimberley Beaumont, Richard A Sturm   +2 more
exaly   +5 more sources

TYRP1 and MC1R genotypes and their effects on coat color in dogs

Mammalian Genome, 2002
We used PCR amplification of cDNA prepared from skin biopsies to determine the nearly full-length, protein-coding sequence of dog TYRP1, and to define sequence variants potentially responsible for the B locus. One common variant contained a premature stop codon in exon 5 (Q331ter), and the other deleted a proline residue in exon 5 (345delP).
Sheila M Schmutz
exaly   +3 more sources

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

Pigment Cell & Melanoma Research, 2018
AbstractMelanocortin 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
Timothy Budden, Nikola A. Bowden
openaire   +2 more sources

The role of MC1R gene in buffalo coat color

Science China Life Sciences, 2010
Melanocortin-1 receptor (MC1R) plays a major role in pigmentation in many species. To investigate if the MC1R gene is associated with coat color in water buffalo, the coding region of MC1R gene of 216 buffalo samples was sequenced, which included 49 black river buffalo (Murrah and Nili-Ravi), 136 swamp buffalo (Dehong, Diandongnan, Dechang, Guizhou ...
YongWang, Miao, GuiSheng, Wu, Lei, Wang, DaLin, Li, ShouKun, Tang, JianPing, Liang, HuaMing, Mao, HuaiRong, Luo, YaPing, Zhang   +8 more
openaire   +2 more sources

Novel MC1R variants in Ligurian melanoma patients and controls

Human Mutation, 2004
Several variant forms of the melanocortin-1 receptor gene (MC1R) have been associated with red hair, fair skin and an increased risk for melanoma. Their involvement in melanoma susceptibility is apparently linked both to skin sensitivity and to non-pigmentary pathways. We investigated the frequency of the MC1R variants in the Italian region of Liguria,
Lorenza, Pastorino, Roberto, Cusano, William, Bruno, Francesca, Lantieri, Paola, Origone, Monica, Barile, Sara, Gliori, Graeme A, Shepherd, Richard A, Sturm, Giovanna, Bianchi-Scarra, Giovanna Bianchi, Scarra   +10 more
openaire   +6 more sources

Melanocortin-1 receptor (MC1R): a review for dermatologists

Italian Journal of Dermatology and Venereology
Melanocortin-1 receptor (MC1R) and its variants have a pivotal role in melanin synthesis. However, MC1R has been associated to non-pigmentary pathways related to DNA-repair activities and inflammation. The aim of this review is to provide an up-to-date overview about the role of MC1R in the skin.
Guida S., Puig S., Di Resta C., Sallustio F., Mangano E., Stabile G., Longo C., Pellacani G., Guida G., Rongioletti F.   +9 more
openaire   +5 more sources

ADAPTIVE REPTILE COLOR VARIATION AND THE EVOLUTION OF THE MC1R GENE

Evolution, 2004
The wealth of information on the genetics of pigmentation and the clear fitness consequences of many pigmentation phenotypes provide an opportunity to study the molecular basis of an ecologically important trait. The melanocortin-1 receptor (Mc1r) is responsible for intraspecific color variation in mammals and birds.
Rosenblum, Erica Bree, Hoekstra, Hopi, Nachman, Michael W.   +2 more
openaire   +4 more sources

[MC1R polymorphisms and facial photoaging].

Annales de dermatologie et de venereologie, 2011
The objective of this study was to assess the association between melanocortin-1 receptor (MC1R) variants and the severity of facial skin photoaging.The study population comprised 530 French middle-aged women between 44 and 70 years. A trained dermatologist graded the severity of facial skin photoaging from photographs using Larnier's global scale ...
J, Latreille, K, Ezzedine, A, Elfakir, L, Ambroisine, R, Jdid, P, Galan, S, Hercberg, F, Gruber, D, Malvy, E, Tschachler, C, Guinot   +10 more
openaire   +1 more source

Is MC1R involved in swine melanoma : analysis of MC1R alleles in MeLiM families?

2004
International ...
Créchet, Francoise, Du, Zhi Qiang, Vincent-Naulleau, Silvia, Arnaudeau-Begard, C., Le Roy, Pascale, Frelat, G., Geffrotin, Claudine   +6 more
openaire   +2 more sources