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Topic: Mc1r

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	Melanocortin-1 receptor: Loss of function mutations and skin cancer
		When the MC1R is stimulated with α-MSH, cyclic-AMP levels increase which leads to an increase in protein kinase A. The increase in protein kinase A leads to an increase in the transcription of microphthalmia transcription factor.
		Therefore, individuals with loss of function of MC1R may be at increased risk for skin cancer due to lack of eumelanin, lack of differentiation of melanocytes and loss of the inherent defense mechanisms of melanocytes and keratinocytes.
		In addition to MC1R loss of function alleles conferring risk for melanoma, these alleles have also been shown to increase the risk for basal cell and squamous cell carcinomas with an odds ratio of 3.15 (95% CI) specifically for the Arg151Cys, Arg160Trp, and Asp294His alleles [15].
	dermatology.cdlib.org /125/UCDcases/melanocortin/draznin.html (1902 words)

	High Polymorphism at the Human Melanocortin 1 Receptor Locus (Site not responding. Last check: 2007-11-07)
		The MC1R gene in common and pygmy chimpanzees, gorilla, orangutan, and baboon was sequenced to study the evolution of MC1R.
		The ancestral human MC1R sequence is identical to the human consensus protein sequence, while MC1R varies considerably among higher primates.
		In addition, the nucleotide diversity at the MC1R locus is shown to be several times higher than the average nucleotide diversity in human populations, possibly due to diversifying selection.
	serc.carleton.edu /resources/1567.html (296 words)

	UV-induced Expression of Key Component of the Tanning Process, the POMC and MC1R Genes, Is Dependent on the ...
		POMC and MC1R expression in response to UV irradiation.
		POMC and MC1R gene expression are UV-inducible (5, 22).
		of the POMC, MC1R, Tyrosinase, and EDN1 genes (Fig.
	www.jbc.org /cgi/content/full/279/49/51226 (5685 words)

	TUMOR IMMUNOLOGY LABORATORY::INMUNOTERAPHY::VACCINES AND BIOLOGICAL PRODUCTS (Site not responding. Last check: 2007-11-07)
		The MC1R protein was detected in 95 percent (17/18) of the tested melanoma tissues, including a lever metastasis.
		We also demonstrated that surface expression of MC1R is up regulated in vitro by different cytokines such as, IFN-?, TNF, and IL-10 which may be relevant for antibody mediated immunotherapy.
		CONCLUSIONS: MC1R protein is more frequently expressed in uveal melanomas than the proteins recognized by HMB-45 and S100 antibodies and might therefore also be included as target for the antibody panel used for diagnosis of uveal melanocytic lesions.
	inmunotron.med.uchile.cl /mc1r.htm (312 words)

	IngentaConnect The Melanocortin 1 Receptor (MC1R): More Than Just Red Hair (Site not responding. Last check: 2007-11-07)
		The MC1R is, therefore, a major determinant of sun sensitivity and a genetic risk factor for melanoma and non-melanoma skin cancer.
		The MC1R is particularly informative and a tractable gene for studies of human evolution and migration.
		The world wide pattern of MC1R diversity is compatible with functional constraint operating in Africa, whereas the greater allelic diversity seen in non-African populations is consistent with neutral predictions rather than selection.
	www.ingentaconnect.com /content/mksg/pcr/2000/00000013/00000003/art00003 (345 words)

	The Secrets of Red Hair (Site not responding. Last check: 2007-11-07)
		Many studies have been done on MC1R the gene that codes for hair color, eye color, skin color, and ultra violet sensitivity, and red hair has been one of the focuses in these studies due to its relationship with UV sensitivity, fair skin, and freckling.
		Moreover, on MC1R, where the alleles that code for red hair occur, so do the alleles that impact skin color so it seems that the phenotypic expression for lighter skin and red hair are interrelated.
		His studies on three red haired children in Jamaica, that had mutations commonly seen in Europeans and were born to self-described fl parents, show that their hair melanins fell within the range of Northern European populations with red hair, including those that are homozygous, heterozygous, and wild-type.
	www.geocities.com /aiamanovg/school1.html (2200 words)

	MC1R - Genetics Home Reference
		Although MC1R is a key gene in normal human pigmentation, researchers believe that the effects of other genes also help determine a person's hair and skin coloring.
		Genetic changes in the MC1R gene increase the risk of developing skin cancer, including a common, serious type of skin cancer that begins in melanocytes (melanoma).
		The MC1R gene is located on the long (q) arm of chromosome 16 at position 24.3.
	ghr.nlm.nih.gov /gene=mc1r (871 words)

	Melanocortin Receptor 1 (MC1R) Mutations and Coat Color in Pigs -- Kijas et al. 150 (3): 1177 -- Genetics
		DNA sequences of the porcine MC1R alleles have been deposited in GenBank as follows: MC1R1, accession number AF082487; MC1R2, accession number AF082488; MC1R3, accession number AF082489; MC1R4, accession number AF082490.
		MC1R was also physically mapped by fluorescence in situ hybridization.
		MC1R flanking region in the pig may shed light on this enigma.
	www.genetics.org /cgi/content/full/150/3/1177 (4647 words)

	Biology Group 12 Honors 181
		The MC1R gene was determined to be the gene responsible for the dark mutation.
		In the mice studied in the laboratory, mutations in the Mc1r receptor which caused loss-of-function were found to be recessive — resulting in light color.
		Mutations resulting in gain-of-function in the Mc1r receptor were found to be dominant, causing dark color.
	student.biology.arizona.edu /honors2005/group12/R&D.htm (643 words)

	Yann Klimentidis' Weblog: MC1R allele frequencies
		Abstract: The melanocortin 1 receptor (MC1R), a member of the G protein-coupled receptors superfamily, mediates the response to melanocortins and is currently the best-described contributor to normal pigment variation in humans.
		Interestingly, some MC1R variants have been associated with skin cancer beyond their effects on pigmentation.
		Exploring differences in allele frequencies of MC1R variants across populations with varying pigmentation and differing skin cancer risk may improve our understanding of the complex relationship between MC1R, pigmentation, and carcinogenesis.
	yannklimentidis.blogspot.com /2007/02/mc1r-allele-frequencies.html (311 words)

	Abstract
		The melanocortin 1 receptor (MC1R) is a key regulator of human pigmentation and is expressed on the surface of melanocytes and melanoma cells.
		MSH independent of MC1R in this organelle, but also raises the issue of whether MC1R is also present at the melanosome.
		These results suggest that MC1R is present close to or within the melanosome as well as at the cell surface, and suggests that part of the function of MC1R may be mediated through its association with the melanosome.
	www.blackwellpublishing.com /esdr2004/abstract.asp?id=18452 (339 words)

	Singapore Science Centre: ScienceNet\|Life Sciences\|Genetics/ Reproduction (Site not responding. Last check: 2007-11-07)
		There are a number of different genes that are responsible for eye and hair colour, but they seem to be found primarily on chromosomes 15 and 19.
		Only one gene, the melanocortin 1 receptor (MC1R) located on chromosome 16, has so far been identified to explain variation in the normal population such as that leading to red hair, freckling, and sun-sensitivity.
		When someone has both of their MC1R genes mutated, this conversion does not happen anymore and you get a buildup of phomelanin, which results in red hair (as well as fair skin and freckles).
	www.science.edu.sg /ssc/detailed.jsp?artid=6291&type=6&root=4&parent=4&cat=40 (775 words)

	MC1R Studies in Dogs With Melanistic Mask or Brindle Patterns -- Schmutz et al. 94 (1): 69 -- Journal of Heredity
		MC1R Studies in Dogs With Melanistic Mask or Brindle Patterns -- Schmutz et al.
		MC1R was mapped to dog chromosome 5 (Schmutz et al.
		A missense mutation in the gene for melanocyte stimulating hormone receptor (MC1R) is associated with the chestnut color in horses.
	jhered.oxfordjournals.org /cgi/content/full/94/1/69 (2565 words)

	Abstract
		Genetic variants of the melanocortin 1 receptor (MC1R) are associated with red hair, fair skin and an increased susceptibility to skin cancer.
		Subjects were genotyped at MC1R and designated as wild type (WT), single variant allele, and two variant alleles at this locus; alleles containing MC1R variants which are not thought to impair receptor function were designated as pseudo-wild type (pWT).
		Twenty seven of 30 subjects were WT MC1R (14 individuals) or had a single variant MC1R allele (13 individuals), and skin biopsies were obtained from 13 WT and 12 single variant subjects.
	www.blackwellpublishing.com /esdr2004/abstract.asp?id=18714 (358 words)

	Zalfa's Testimony and Tips (Site not responding. Last check: 2007-11-07)
		Given the importance of skin pigmentation in the response of the skin to sun exposure and the risk for skin cancer, I investigated the role of melanocrotins in the response of human melanocytes to ultraviolet radiation (UV), the damaging radiation from the sun that causes skin cancer.
		We found that the same forms of the MC1R gene that cause red hair, result in loss of function of the receptor, and render melanocytes very sensitive to the damaging effects of UV, which explains the increased susceptibility to melanoma.
		The knowledge gained about the melanocortins and the MC1R and their effects on human melanocytes led us to design and synthesize peptides based on the chemical structure of a-MSH that not only increase pigment synthesis by the melanocytes, but also repair sun-induced DNA damage that causes skin cancer.
	www.ohiocancer.org /zalfa.htm (569 words)

	A Frameshift Mutation in MC1R and a High Frequency of Somatic Reversions Cause Black Spotting in Pigs -- Kijas et al. ...
		A Frameshift Mutation in MC1R and a High Frequency of Somatic Reversions Cause Black Spotting in Pigs -- Kijas et al.
		Alignment of the amino terminal region of melanocortin receptor 1 (MC1R) in pigs, cattle, humans, and mouse.
		Gaps in the alignment are indicated by colons and identities to the pig sequence are indicated by dashes.
	www.genetics.org /cgi/content/full/158/2/779 (3855 words)

	Scientists Identify Gene That Strongly Affects Risk of Melanoma, June 29, 2006 News Release - National Institutes of ...
		Everyone has two copies of MC1R; one inherited from the mother and one from the father, and either can be the standard form or a variant.
		They then sequenced MC1R genes in normal cells and BRAF in tumor cells and found that BRAF mutations were more frequent in non-chronic sun-induced melanoma cases with hereditary genetic variant forms of MC1R.
		By categorizing patients into two groups, those with no variant forms of MC1R versus those who had at least one variant, the scientists found that BRAF mutations were six to 13 times more frequent in those with at least one MC1R variant form.
	www.nih.gov /news/pr/jun2006/nci-29.htm (899 words)

	Melanocortin-1 Receptor (MC1R) Gene Variants and Dysplastic Nevi Modify Penetrance of CDKN2A Mutations in French ...
		CDKN2A and MC1R according to melanoma status is shown in Table 1.
		Because MC1R is known to be involved in the UV sensitivity pathway,
		Melanocortin 1 receptor (MC1R) gene variants may increase the risk of melanoma in France independently of clinical risk factors and UV exposure.
	cebp.aacrjournals.org /cgi/content/full/14/10/2384 (5068 words)

	MC1R, ASIP, and DNA Repair in Sporadic and Familial Melanoma in a Mediterranean Population -- Landi et al. 97 (13): 998 ...
		MC1R, ASIP, and DNA Repair in Sporadic and Familial Melanoma in a Mediterranean Population -- Landi et al.
		MC1R, ASIP, and DNA Repair in Sporadic and Familial Melanoma in a Mediterranean Population
		By contrast with MC1R, the ASIP polymorphism was
	jnci.oxfordjournals.org /cgi/content/full/97/13/998 (6716 words)

	Topical drug rescue strategy and skin protection based on the role of Mc1r in UV-induced tanning : Abstract : Nature
		Although this suggested a critical role for the MC1R ligand melanocyte stimulating hormone (MSH) in this response, a genetically controlled system has been lacking in which to determine the precise role of MSH–MC1R.
		However, pigmentation could be rescued by topical application of the cyclic AMP agonist forskolin, without the need for ultraviolet light, demonstrating that the pigmentation machinery is available despite the absence of functional MC1R.
		Mc1r in UV-induced tanning&author= John A. D'Orazio, Tetsuji Nobuhisa, Rutao Cui, Michelle Arya, Malinda Spry et al.
	www.nature.com /nature/journal/v443/n7109/abs/nature05098.html (440 words)

	LifeSpan Biosciences - Gene Detail (Site not responding. Last check: 2007-11-07)
		MC1R, a Melanocortin Receptor, mediates the effects of melanocyte-stimulating hormone (MSH) and adrenocorticotropic hormone (ACTH).
		MSH and its receptor, MC1R, are key regulators of melanogenesis.
		Therefore, MC1R is a major determinant of sun sensitivity and genetic risk for melanoma and other skin cancers.
	www.lsbio.com /products/GeneDetail.aspx?LSID=3061 (256 words)

	Detection of MC1R Polymorphisms with Protease-Mediated Allele-Specific Extension as an Alternative to Direct Sequencing ...
		Clustering of the results from 48 samples for variant –226A>T with the genotypes of the 3 clusters indicated together with schematics of the individual extensions of the allele-specific primers are shown at the bottom left.
		The Asp84Glu variant of the melanocortin 1 receptor (MC1R) is associated with melanoma.
		MC1R and the response of melanocytes to ultraviolet radiation.
	www.clinchem.org /cgi/content/full/51/12/2388 (1994 words)

	Regulation of constitutive and UVR-induced skin pigmentation by melanocortin 1 receptor isoforms -- Rouzaud et al. 20 ...
		Western blot was used to detect MC1R expression in 15 NHM cultures
		Schematic summary of variations in expression of MC1R isoforms and the proposed model of their influence on constitutive and UVR-induced pigmentation.
		The total MC1R absolute quantity increases with total melanin content in NHM and acts on melanin synthesis via the stimulation of MITF and tyrosinase (top).
	www.fasebj.org /cgi/content/summary/20/11/1927 (1564 words)

	Exclusion of Melanocortin-1 Receptor (Mc1r) and Agouti as Candidates for Dominant Black in Dogs -- Kerns et al. 94 (1): ...
		Exclusion of Melanocortin-1 Receptor (Mc1r) and Agouti as Candidates for Dominant Black in Dogs -- Kerns et al.
		Mc1r as the genes responsible for dominant fl in the Cornell
		TYRP1 and MC1R genotypes and their effects on coat color in dogs.
	jhered.oxfordjournals.org /cgi/content/full/94/1/75 (2143 words)

	Human melanocortin 1 receptor variants, receptor function and melanocyte response to UV radiation -- Scott et al. 115 ...
		The responses of NHM 753-c, 830-c, 849-b and 755-c, homozygous or compound heterozygous for MC1R variants, and NHM 747-c, 729-c and 751-b, homozygous for the consensus MC1R were compared.
		We compared the response to UVBR of NHM 753-c, 830-c and 849-b homozygous or heterozygous for loss-of-function mutations in MC1R to that of NHM 765-c and NHM 755-c, heterozygous or homozygous for Val92Met substitution, respectively.
		MC1R revealed a striking difference in the extent of cell death.
	jcs.biologists.org /cgi/content/full/115/11/2349 (5045 words)

	Functional variation of MC1R alleles from red-haired individuals -- Healy et al. 10 (21): 2397 -- Human Molecular ...
		<50% of the MC1R genes encode the ‘wild-type’
		Mouse transgenic and endogenous Mc1r genomic DNA was amplified
		8 Marklund, L., Moller, M.J., Sandberg, K. and Andersson, L. (1996) A missense mutation in the gene for melanocyte-stimulating hormone receptor (MC1R) is associated with the chestnut coat color in horses.
	hmg.oxfordjournals.org /cgi/content/full/10/21/2397 (4098 words)

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