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https://www.readbyqxmd.com/read/28098220/comparative-transcriptome-analysis-of-raccoon-dog-skin-to-determine-melanin-content-in-hair-and-melanin-distribution-in-skin
#1
Zhanyu Du, Kai Huang, Jiaping Zhao, Xingchao Song, Xiumei Xing, Qiong Wu, Linbo Zhang, Chao Xu
The raccoon dog (Nyctereutes procyonoides) is an important canid fur-bearing animal species worldwide. Chinese raccoon dogs that present a white mutation, especially those with a white coat. Exploring melanin biosynthesis in the hair and skin of raccoon dogs is important for understanding the survival and evolutionary mechanisms of them. In this study, we measured the content of melanin in the hair of two types of raccoon dog and generated stained slices of skin tissue. The results indicated that melanin biosynthesis occurs in the wild-type (W) and white-type (B) raccoon dog skin, although less melanin is produced in B skin...
January 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28094871/divergence-of-camp-signaling-pathways-mediating-augmented-nucleotide-excision-repair-and-pigment-induction-in-melanocytes
#2
Erin M Wolf Horrell, Stuart G Jarrett, Katharine M Carter, John A D'Orazio
Loss-of-function melanocortin 1 receptor (MC1R) polymorphisms are common in UV-sensitive fair-skinned individuals and are associated with blunted cAMP second messenger signaling and higher lifetime risk of melanoma because of diminished ability of melanocytes to cope with UV damage. cAMP signaling positions melanocytes to resist UV injury by up-regulating synthesis of UV-blocking eumelanin pigment and by enhancing the repair of UV-induced DNA damage. cAMP enhances melanocyte nucleotide excision repair (NER), the genome maintenance pathway responsible for the removal of mutagenic UV photolesions, through cAMP-activated protein kinase (protein kinase A)-mediated phosphorylation of the ataxia telangiectasia mutated and Rad3 related (ATR) protein on the S435 residue...
January 17, 2017: Experimental Dermatology
https://www.readbyqxmd.com/read/28081215/genome-wide-association-studies-of-multiple-keratinocyte-cancers
#3
Luba M Pardo, Wen-Qing Li, Shih-Jen Hwang, Joris A C Verkouteren, Albert Hofman, André G Uitterlinden, Peter Kraft, Constance Turman, Jiali Han, Eunyoung Cho, Joanne M Murabito, Daniel Levy, Abrar A Qureshi, Tamar Nijsten
There is strong evidence for a role of environmental risk factors involved in susceptibility to develop multiple keratinocyte cancers (mKCs), but whether genes are also involved in mKCs susceptibility has not been thoroughly investigated. We investigated whether single nucleotide polymorphisms (SNPs) are associated with susceptibility for mKCs. A genome-wide association study (GWAS) of 1,666 cases with mKCs and 1,950 cases with single KC (sKCs; controls) from Harvard cohorts (the Nurses' Health Study [NHS], NHS II, and the Health Professionals Follow-Up Study) and the Framingham Heart Study was carried-out using over 8 million SNPs (stage-1)...
2017: PloS One
https://www.readbyqxmd.com/read/28063031/pharmacokinetics-and-pharmacodynamics-of-afamelanotide-and-its-clinical-use-in-treating-dermatologic-disorders
#4
REVIEW
Elisabeth I Minder, Jasmin Barman-Aksoezen, Xiaoye Schneider-Yin
Afamelanotide, the first α-melanocyte-stimulating hormone (MSH) analogue, synthesized in 1980, was broadly investigated in all aspects of pigmentation because its activity and stability were higher than the natural hormone. Afamelanotide binds to the melanocortin-1 receptor (MC1R), and MC1R signaling increases melanin synthesis, induces antioxidant activities, enhances DNA repair processes and modulates inflammation. The loss-of-function variants of the MC1R present in fair-skinned Caucasians are less effectively activated by the natural hormone...
January 6, 2017: Clinical Pharmacokinetics
https://www.readbyqxmd.com/read/28059796/a-common-variant-in-the-mc1r-gene-p-v92m-is-associated-with-alzheimer-s-disease-risk
#5
Gemma Tell-Marti, Joan Anton Puig-Butille, Miriam Potrony, Estel Plana, Celia Badenas, Anna Antonell, Raquel Sanchez-Valle, José L Molinuevo, Alberto Lleó, Daniel Alcolea, Juan Fortea, Ruben Fernandez-Santiago, Jordi Clarimón, Albert Lladó, Susana Puig
Despite the recent identification of some novel risk genes for Alzheimer's disease (AD), the genetic etiology of late-onset Alzheimer's disease (LOAD) remains largely unknown. The inclusion of these novel risk genes to the risk attributable to the APOE gene accounts for roughly half of the total genetic variance in LOAD. The evidence indicates that undiscovered genetic factors may contribute to AD susceptibility. In the present study, we sequenced the MC1R gene in 525 Spanish LOAD patients and in 160 controls...
December 3, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28056768/a-combination-of-long-term-fragmentation-and-glacial-persistence-drove-the-evolutionary-history-of-the-italian-wall-lizard-podarcis-siculus
#6
Gabriele Senczuk, Paolo Colangelo, Emanuela De Simone, Gaetano Aloise, Riccardo Castiglia
BACKGROUND: The current distribution of genetic diversity is the result of a vast array of microevolutionary processes, including short-term demographic and ecological mechanisms and long-term allopatric isolation in response to Quaternary climatic fluctuations. We investigated past processes that drove the population differentiation and spatial genetic distribution of the Italian wall lizard Podarcis siculus by means of sequences of mitochondrial cytb (n = 277 from 115 localities) and nuclear mc1r and β-fibint7genes (n = 262 and n = 91, respectively) from all its distribution range...
January 5, 2017: BMC Evolutionary Biology
https://www.readbyqxmd.com/read/28048872/we-fg-bra-10-radiodosimetry-of-a-novel-alpha-particle-therapy-targeted-to-uveal-melanoma-absorbed-dose-to-organs-in-mice
#7
Christopher J Tichacek, Narges K Tafreshi, Mikalai M Budzevich, Epifanio Ruiz, Thaddeus J Wadas, Mark L McLaughlin, Eduardo G Moros, David L Morse
PURPOSE: The melanocortin-1 receptor (MC1R) is expressed in 94% of uveal melanomas and is described as an ideal target for this untreatable disease. MC1RL is a high affinity MC1R specific peptidomimetic ligand that can serve as a scaffold for therapeutic conjugates such as alpha particle emitting isotopes. The purpose of this study was to assess normal tissue distribution and risk as a result of using the DOTA chelator conjugated to MC1RL to deliver (225) Ac: MC1RL-DOTA-(225) Ac. METHODS: 17 non-tumor bearing BALB/c mice were intravenously injected with the novel MC1RL-DOTA-(225) Ac radiopharmaceutical with an average initial administered activity of 2...
June 2016: Medical Physics
https://www.readbyqxmd.com/read/28045525/a-macrocyclic-agouti-related-protein-nle-4-dphe-7-%C3%AE-melanocyte-stimulating-hormone-chimeric-scaffold-produces-subnanomolar-melanocortin-receptor-ligands
#8
Mark D Ericson, Katie T Freeman, Sathya M Schnell, Carrie Haskell-Luevano
The melanocortin system consists of five receptor subtypes, endogenous agonists, and naturally occurring antagonists. These receptors and ligands have been implicated in numerous biological pathways including processes linked to obesity and food intake. Herein, a truncation structure-activity relationship study of chimeric agouti-related protein (AGRP)/[Nle4,DPhe7]α-melanocyte stimulating hormone (NDP-MSH) ligands is reported. The tetrapeptide His-DPhe-Arg-Trp or tripeptide DPhe-Arg-Trp replaced the Arg-Phe-Phe sequence in the AGRP active loop derivative c[Pro-Arg-Phe-Phe-Xxx-Ala-Phe-DPro], where Xxx was the native Asn of AGRP or a diaminopropionic (Dap) acid residue previously shown to increase antagonist potency at the mMC4R...
January 17, 2017: Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/28030792/genomic-expression-differences-between-cutaneous-cells-from-red-hair-color-individuals-and-black-hair-color-individuals-based-on-bioinformatic-analysis
#9
Joan Anton Puig-Butille, Pol Gimenez-Xavier, Alessia Visconti, Jérémie Nsengimana, Francisco Garcia-García, Gemma Tell-Marti, Maria José Escamez, Julia Newton-Bishop, Veronique Bataille, Marcela Del Río, Joaquín Dopazo, Mario Falchi, Susana Puig
The MC1R gene plays a crucial role in pigmentation synthesis. Loss-of-function MC1R variants, which impair protein function, are associated with red hair color (RHC) phenotype and increased skin cancer risk. Cultured cutaneous cells bearing loss-of-function MC1R variants show a distinct gene expression profile compared to wild-type MC1R cultured cutaneous cells. We analysed the gene signature associated with RHC co-cultured melanocytes and keratinocytes by Protein-Protein interaction (PPI) network analysis to identify genes related with non-functional MC1R variants...
December 24, 2016: Oncotarget
https://www.readbyqxmd.com/read/28024137/-secrets-of-the-red-headed
#10
REVIEW
Zygmunt Zdrojewicz, Małgorzata Kowalik, Adam Jagodziński
Only 1-2% of people is red-headed but in the Russian Udmurt Republic or United Kingdom they can be met more often. A specific variant of MC1R gene (R allele) is responsible for the red hair. The gene encodes a receptor for melanocortins. These substances stimulate melanocytes to product melanin- a dye of the skin which is transported to keratinocytes. It protects a cellular nucleus from ultraviolet radiation. Melanin has two types: eumelanin which is dark brown or even black and red/orange pheomelanin. The second one is mostly observed in red-headed which is caused by R allele...
December 22, 2016: Polski Merkuriusz Lekarski: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/28024115/mutation-load-in-melanoma-is-affected-by-mc1r-genotype
#11
Peter A Johansson, Antonia Pritchard, Ann-Marie Patch, James S Wilmott, John V Pearson, Nicola Waddell, Richard A Scolyer, Graham J Mann, Nicholas K Hayward
Whole-genome sequencing of matched germline and tumour pairs in a well characterised cohort of melanoma patients allowed investigation of associations between melanoma body site, age at melanoma onset and MC1R variant status with overall mutation burden and specific base pair changes observed in the corresponding melanoma. We observed statistically significant associations between mutation burden in melanoma and body site, age at onset and MC1R genotype, for both ultraviolet radiation (UVR) signature changes (C>T and CC>TT) and non-UVR base pair substitutions, as well as with overall variant load...
December 26, 2016: Pigment Cell & Melanoma Research
https://www.readbyqxmd.com/read/28019657/the-melanoma-linked-redhead-mc1r-influences-dopaminergic-neuron-survival
#12
Xiqun Chen, Hongxiang Chen, Waijiao Cai, Michael Maguire, Bailiu Ya, Fuxing Zuo, Robert Logan, Hui Li, Katey Robinson, Charles R Vanderburg, Yang Yu, Yinsheng Wang, David E Fisher, Michael A Schwarzschild
OBJECTIVE: Individuals with Parkinson's disease are more likely to develop melanoma, and melanoma patients are reciprocally at higher risk of developing Parkinson's disease. Melanoma is strongly tied to red hair/fair skin, a phenotype of loss-of-function polymorphisms in the MC1R (melanocortin 1 receptor) gene. Loss-of-function variants of MC1R have also been linked to increased risk of Parkinson's disease. The present study is to investigate the role of MC1R in dopaminergic neurons in vivo...
December 26, 2016: Annals of Neurology
https://www.readbyqxmd.com/read/28002929/coat-colour-phenotype-of-qingyu-pig-is-associated-with-polymorphisms-of-melanocortin-receptor-1-gene
#13
Xiaoqian Wu, Zhendong Tan, Linyuan Shen, Qiong Yang, Xiao Cheng, Kun Liao, Lin Bai, Surong Shuai, Mingzhou Li, Xuewei Li, Shunhua Zhang, Li Zhu
Melanocortin receptor 1 (MC1R) and Agouti signaling protein (ASIP) are two widely reported pivotal genes that significantly affect the regulation of coat colour. Qingyu pig, a Chinese indigenous pig breed, exhibits two types of coat colour phenotypes, including pure black and white with black spotting respectively. The objectives of this study were to investigate whether the polymorphisms of these two genes are associated with coat colour and analyze the molecular mechanism of the coat colour separation in Qingyu pig...
December 17, 2016: Asian-Australasian Journal of Animal Sciences
https://www.readbyqxmd.com/read/27993549/higher-naevus-count-exhibits-a-distinct-dna-methylation-signature-in-healthy-human-skin-implications-for-melanoma
#14
Leonie Roos, Johanna K Sandling, Christopher G Bell, Daniel Glass, Massimo Mangino, Tim D Spector, Panos Deloukas, Veronique Bataille, Jordana T Bell
High naevus count is the strongest risk factor for melanoma and although gene variants have been discovered for both traits, epigenetic variation is unexplored. We investigated 322 healthy human skin DNA methylomes associated with total body naevi count, incorporating genetic and transcriptomic variation. DNA methylation changes were identified at genes involved in melanocyte biology, such as RAF1 (p = 1.2 x 10(-6)) and CTC1 (region: p = 6.3 x 10(-4)), and other genes including ARRDC1 (p = 3.1 x 10(-7)). A subset exhibited coordinated methylation and transcription changes within the same biopsy...
December 16, 2016: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/27988976/adaptive-downregulation-of-pheomelanin-related-slc7a11-gene-expression-by-environmentally-induced-oxidative-stress
#15
Ismael Galván, Ângela Inácio, Ana Angela Romero-Haro, Carlos Alonso-Alvarez
Pheomelanin is a sulphur-containing yellow-to-reddish pigment whose synthesis consumes the main intracellular antioxidant (glutathione; GSH) and its precursor cysteine. Cysteine used for pheomelanogenesis cannot be used for antioxidant protection. We tested if the expression of Slc7a11, the gene regulating the transport of cysteine to melanocytes for pheomelanogenesis, is environmentally influenced when cysteine/GSH are most required for antioxidant protection. We found that zebra finches Taeniopygia guttata developing pheomelanin-pigmented feathers during a 12-day exposure to the pro-oxidant diquat dibromide downregulated the expression of Slc7a11 in feather melanocytes, but not the expression of other genes that affect pheomelanogenesis by mechanisms different from cysteine transport such as MC1R and Slc45a2...
December 18, 2016: Molecular Ecology
https://www.readbyqxmd.com/read/27957493/the-relationship-between-mc1r-mutation-and-plumage-color-variation-in-pigeons
#16
Jin-Shan Ran, Xiao-Yan You, Jie Jin, Yu-Guang Zhou, Ye Wang, Dan Lan, Peng Ren, Yi-Ping Liu
The polymorphisms of MC1R gene play a crucial role in coat color variation in mammals; however, the relationship is still unclear in pigeons. In this study, we sequenced 741 bp fragment of the MC1R for 39 individuals with five plumage color patterns (gray plumage, n = 12; black plumage, n = 9; white plumage, n = 3; spotted plumage, n = 12; red plumage, n = 3). A total of three single nucleotide polymorphisms (SNPs) were detected, including G199A, G225A, and A466G, which subsequently determined four haplotypes (H1-H4)...
2016: BioMed Research International
https://www.readbyqxmd.com/read/27924526/the-p-r151c-polymorphism-in-mc1r-gene-modifies-the-age-of-onset-in-spanish-huntington-s-disease-patients
#17
Gemma Tell-Marti, Joan Anton Puig-Butille, Pol Gimenez-Xavier, Ariadna Segu-Roig, Miriam Potrony, Celia Badenas, Victoria Alvarez, José M Millán, María José Trujillo-Tiebas, María A Ramos-Arroyo, Montserrat Milà, Susana Puig
The expansion of CAG repeats (≥36 CAG) in the HTT gene is the only known genetic cause of Huntington's disease (HD) and the main determinant of the course of the disease. The length of the expanded CAG repeats correlates inversely with the age of onset (AOO) but does not completely determine it. We investigated the role of the melanocortin 1 receptor (MC1R) gene as a modifier factor of AOO in 600 HD patients from Spain. We sequenced the entire region of the MC1R gene and analyzed all the nonsynonymous MC1R genetic variants with a minor allele frequency of at least 0...
December 6, 2016: Molecular Neurobiology
https://www.readbyqxmd.com/read/27892516/in-vivo-coherent-raman-imaging-of-the-melanomagenesis-associated-pigment-pheomelanin
#18
Hequn Wang, Sam Osseiran, Vivien Igras, Alexander J Nichols, Elisabeth M Roider, Joachim Pruessner, Hensin Tsao, David E Fisher, Conor L Evans
Melanoma is the most deadly form of skin cancer with a yearly global incidence over 232,000 patients. Individuals with fair skin and red hair exhibit the highest risk for developing melanoma, with evidence suggesting the red/blond pigment known as pheomelanin may elevate melanoma risk through both UV radiation-dependent and -independent mechanisms. Although the ability to identify, characterize, and monitor pheomelanin within skin is vital for improving our understanding of the underlying biology of these lesions, no tools exist for real-time, in vivo detection of the pigment...
November 28, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27851802/str-profiling-for-discrimination-between-wild-and-domestic-swine-specimens-and-between-main-breeds-of-domestic-pigs-reared-in-belarus
#19
Krzysztof Rębała, Alina A Rabtsava, Svetlana A Kotova, Viachaslau N Kipen, Natalja V Zhurina, Alla I Gandzha, Iosif S Tsybovsky
A panel comprising 16 short tandem repeats (STRs) and a gender-specific amelogenin marker was worked out and tested for robustness in discrimination between wild and domestic swine subspecies encountered in Europe, between regional populations of wild boars and between main breeds of domestic pigs reared in Belarus. The STR dataset comprised 310 wild boars, inhabiting all administrative regions of Belarus, and 313 domestic pigs, representing three local and three cosmopolitan lines. Additionally, a total of 835 wild boars were genotyped for the presence of melanocortin 1 receptor (MC1R) alleles specific for domestic pigs...
2016: PloS One
https://www.readbyqxmd.com/read/27793723/association-of-estradiol-on-expression-of-melanocortin-receptors-and-their-accessory-proteins-in-the-liver-of-chicken-gallus-gallus
#20
Junxiao Ren, Yanmin Li, Naiyi Xu, Hong Li, Cuicui Li, Ruili Han, Yanbin Wang, Zhuanjian Li, Xiangtao Kang, Xiaojun Liu, Yadong Tian
The melanocortin receptor accessory proteins (MRAP and MRAP2) are small single-pass transmembrane proteins that regulate the biological functions of the melanocortin receptor (MCR) family. MCRs comprise five receptors (MC1R-MC5R) with diverse physiological roles in mammals. Five MCR members and two MRAPs were also predicted in the chicken (Gallus gallus) genome. However, little is known about their expression, regulation and biological functions. In this study, we cloned the MRAP and MRAP2 genes. Sequencing analysis revealed that the functional domains of MRAP and MRAP2 were conserved among species, suggesting that the physiological roles of chicken MRAP and MRAP2 could be similar to their mammalian counterparts...
January 1, 2017: General and Comparative Endocrinology
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