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https://www.readbyqxmd.com/read/28502801/genome-wide-association-reveals-pigmentation-genes-play-a-role-in-skin-aging
#1
Matthew H Law, Sarah E Medland, Gu Zhu, Seyhan Yazar, Ana Viñuela, Leanne Wallace, Sri Niranjan Shekar, David L Duffy, Veronique Bataille, Dan Glass, Tim D Spector, Diane Wood, Scott D Gordon, Julie M Barbour, Anjali K Henders, Alex W Hewitt, Grant W Montgomery, Richard A Sturm, David A Mackey, Adèle C Green, Nicholas G Martin, Stuart MacGregor
Loss of fine skin patterning is a sign of both aging and photoaging. Studies investigating the genetic contribution to skin patterning offer an opportunity to better understand a trait that influences both physical appearance and risk of keratinocyte skin cancer. We undertook a meta-analysis of genome-wide association studies (GWAS) of a measure of skin pattern (microtopography score) damage in 1,671 twin pairs and 1,745 singletons (N = 5,087) drawn from three independent cohorts. We identified that rs185146 near SLC45A2 is associated with a skin aging trait (p = 4...
May 11, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28501589/genetic-modifiers-of-multiple-sclerosis-progression-severity-and-onset
#2
A Dessa Sadovnick, Anthony L Traboulsee, Yinshan Zhao, Cecily Q Bernales, Mary Encarnacion, Jay P Ross, Irene M Yee, Maria G Criscuoli, Carles Vilariño-Güell
The genetic contribution to clinical outcomes for multiple sclerosis (MS) has yet to be defined. We performed exome sequencing analysis in 100 MS patients presenting opposite extremes of clinical phenotype (discovery cohort), and genotyped variants of interest in 2016 MS patients (replication cohort). Linear and logistic regression analyses were used to identify significant associations with disease course, severity and onset. Our analysis of the discovery cohort nominated 38 variants in 21 genes. Replication analysis identified PSMG4 p...
May 10, 2017: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/28491052/receptor-mediated-melanoma-targeting-with-radiolabeled-%C3%AE-melanocyte-stimulating-hormone-relevance-of-the-net-charge-of-the-ligand
#3
Jean-Philippe Bapst, Alex N Eberle
A majority of melanotic and amelanotic melanomas overexpress melanocortin type 1 receptors (MC1Rs) for α-melanocyte-stimulating hormone. Radiolabeled linear or cyclic analogs of α-MSH have a great potential as diagnostic or therapeutic tools for the management of malignant melanoma. Compounds such as [(111)In]DOTA-NAP-amide exhibit high affinity for the MC1R in vitro, good tumor uptake in vivo, but they may suffer from relatively high kidney uptake and retention in vivo. We have shown previously that the introduction of negative charges into radiolabeled DOTA-NAP-amide peptide analogs may enhance their excretion and reduce kidney retention...
2017: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/28486572/evaluation-of-mc1r-high-throughput-nucleotide-sequencing-data-generated-by-the-1000-genomes-project
#4
Leonardo Arduino Marano, Letícia Marcorin, Erick da Cruz Castelli, Celso Teixeira Mendes-Junior
The advent of next-generation sequencing allows simultaneous processing of several genomic regions/individuals, increasing the availability and accuracy of whole-genome data. However, these new approaches may present some errors and bias due to alignment, genotype calling, and imputation methods. Despite these flaws, data obtained by next-generation sequencing can be valuable for population and evolutionary studies of specific genes, such as genes related to how pigmentation evolved among populations, one of the main topics in human evolutionary biology...
May 8, 2017: Genetics and Molecular Biology
https://www.readbyqxmd.com/read/28485764/%C3%A3-kad-kunskap-om-familj%C3%A3-rt-melanom-och-de-bakom%C3%A2-liggande-generna
#5
Hildur Helgadottir, Kari Nielsen, Veronica Höiom
Increased knowledge on familial melanoma and the underlying genetics Approximately 5-10 % of all melanoma patients have close relatives with melanoma. 5-20% of melanoma families have germline mutations in the CDKN2A gene. Swedish CDKN2A mutation carriers have a young median age of onset of melanoma, increased risks of multiple primary melanoma and of tobacco-associated cancers in respiratory and upper digestive tissues, and also worse survival compared to non-carriers. In up to 80% of melanoma families no high risk melanoma associated germline mutations are found...
May 9, 2017: Läkartidningen
https://www.readbyqxmd.com/read/28463841/skin-pigmentation-genetics-for-the-clinic
#6
Stephen A Ainger, Kasturee Jagirdar, Katie J Lee, H Peter Soyer, Richard A Sturm
Human pigmentation characteristics play an important role in the effects of sun exposure, skin cancer induction and disease outcomes. Several of the genes most important for this diversity are involved in the regulation and distribution of melanin pigmentation or enzymes involved in melanogenesis itself within the melanocyte cell present in the skin, hair and eyes. The single nucleotide polymorphisms and extended haplotypes within or surrounding these genes have been identified as risk factors for skin cancer, in particular, melanoma...
May 3, 2017: Dermatology: International Journal for Clinical and Investigative Dermatology
https://www.readbyqxmd.com/read/28452072/pgc-1%C3%AE-in-melanoma-a-key-factor-for-antioxidant-response-and-mitochondrial-function
#7
Margalida Torrens-Mas, Daniel González-Hedström, Marta Abrisqueta, Pilar Roca, Jordi Oliver, Jorge Sastre-Serra
Melanocortin 1 receptor (MC1R) and BRAF are common mutations in melanoma. Through different pathways, they each regulate the expression of PGC-1α, which is a key factor in the regulation of mitochondrial biogenesis and the antioxidant response. Our aim was to study the importance of the different regulatory characteristics of MC1R and BRAF on the pathways they regulate in melanoma. For this purpose, ROS production, levels of gene expression and enzymatic activities were analyzed in HBL and MeWo, with wild-type MC1R and BRAF, and A375 cells with mutant MC1R and BRAF...
April 27, 2017: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/28442450/implementing-an-internet-delivered-skin-cancer-genetic-testing-intervention-to-improve-sun-protection-behavior-in-a-diverse-population-protocol-for-a-randomized-controlled-trial
#8
Jennifer L Hay, Marianne Berwick, Kate Zielaskowski, Kirsten Am White, Vivian M Rodríguez, Erika Robers, Dolores D Guest, Andrew Sussman, Yvonne Talamantes, Matthew R Schwartz, Jennie Greb, Jessica Bigney, Kimberly A Kaphingst, Keith Hunley, David B Buller
BACKGROUND: Limited translational genomic research currently exists to guide the availability, comprehension, and appropriate use of personalized genomics in diverse general population subgroups. Melanoma skin cancers are preventable, curable, common in the general population, and disproportionately increasing in Hispanics. OBJECTIVE: Variants in the melanocortin-1 receptor (MC1R) gene are present in approximately 50% of the population, are major factors in determining sun sensitivity, and confer a 2-to-3-fold increase in melanoma risk in the general population, even in populations with darker skin...
April 25, 2017: JMIR Research Protocols
https://www.readbyqxmd.com/read/28426141/melanocortin-2-3-and-4-receptor-gene-expressions-are-downregulated-in-cd8-t-cytotoxic-lymphocytes-and-cd19-b-lymphocytes-in-rheumatoid-arthritis-responding-to-tnf%C3%AE-inhibition
#9
Marlene Andersen, Ivan Nagaev, Michael Kruse Meyer, Olga Nagaeva, Jarl Wikberg, Lucia Mincheva-Nilsson, Grethe Neumann Andersen
Melanocortin signaling in leukocyte subsets elicits anti-inflammatory and immune tolerance inducing effects in animal experimental inflammation. In man, however, the effects of melanocortin signaling in inflammatory conditions have scarcely been examined. We explored the differential reactions of melanocortin 1-5 receptor (MC1-5R) gene expressions in pathogenetic leukocyte subsets in rheumatoid arthritis (RA) to treatment with TNFα inhibitor adalimumab. Seven patients with active RA donated blood at start and at three months treatment...
April 20, 2017: Scandinavian Journal of Immunology
https://www.readbyqxmd.com/read/28411032/a-2-bp-insertion-c-67_68inscc-in-mc1r-causes-recessive-white-coat-color-in-bama-miniature-pigs
#10
LETTER
Qitao Jia, Chunwei Cao, Hai Tang, Ying Zhang, Qiantao Zheng, Xiao Wang, Rui Zhang, Xianlong Wang, Ailing Luo, Hong Wei, Anming Meng, Qi Zhou, Hongmei Wang, Jianguo Zhao
No abstract text is available yet for this article.
April 20, 2017: Journal of Genetics and Genomics, Yi Chuan Xue Bao
https://www.readbyqxmd.com/read/28382689/p53-regulates-erk1-2-creb-cascade-via-a-novel-sash1-map2k2-crosstalk-to-induce-hyperpigmentation
#11
Ding'an Zhou, Zhongshu Kuang, Xing Zeng, Ke Wang, Jiangshu Ma, Huangchao Luo, Mei Chen, Yan Li, Jiawei Zeng, Shu Li, Fujun Luan, Yong He, Hongying Dai, Beizhong Liu, Hui Li, Lin He, Qinghe Xing
We previously reported that three point mutations in SASH1 and mutated SASH1 promote melanocyte migration in dyschromatosis universalis hereditaria (DUH) and a novel p53/POMC/Gαs/SASH1 autoregulatory positive feedback loop is regulated by SASH1 mutations to induce pathological hyperpigmentation phenotype. However, the underlying mechanism of molecular regulation to cause this hyperpigmentation disorder still remains unclear. In this study, we aimed to investigate the molecular mechanism undergirding hyperpigmentation in the dyschromatosis disorder...
April 6, 2017: Journal of Cellular and Molecular Medicine
https://www.readbyqxmd.com/read/28382155/preclinical-melanoma-imaging-with-68-ga-labeled-%C3%AE-melanocyte-stimulating-hormone-derivatives-using-pet
#12
Chengcheng Zhang, Zhengxing Zhang, Kuo-Shyan Lin, Jinhe Pan, Iulia Dude, Navjit Hundal-Jabal, Nadine Colpo, François Bénard
It is estimated that melanoma accounted for 76,380 new cases and 10,130 deaths in the United States in 2016. The melanocortin 1 receptor (MC1R) is highly expressed in the vast majority of melanomas, which makes it an attractive target for molecular imaging and radionuclide therapy. Lactam bridge-cyclized α-melanocyte-stimulating hormone (Ac-Nle(4)-cyclo[Asp(5)-His-D-Phe(7)-Arg-Trp-Lys(10)]-NH2, or Nle-CycMSHhex) analogues have been successfully developed and studied for MC1R-targeted imaging, predominantly with single-photon emission computed tomography (SPECT)...
2017: Theranostics
https://www.readbyqxmd.com/read/28378841/%C3%AE-msh-and-melanocortin-receptors-at-early-ontogeny-in-european-sea-bass-dicentrarchus-labrax-l
#13
A Tsalafouta, M Gorissen, T N M Pelgrim, N Papandroulakis, G Flik, M Pavlidis
Temporal patterns of whole-body α-MSH concentrations and of transcripts of melanocortin receptors during early development as well as the endocrine response (α-MSH, cortisol, MCR mRNAs) to stress at the end of the larval period were characterized in Dicentrarchus labrax. Immunohistochemistry showed α-MSH positive cells in the pituitary pars intermedia in all stages examined. As development proceeds, α-MSH content gradually increases; mRNA levels of mc2r and mc4r remain low until first feeding where peak values are observed...
April 5, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28370617/genomic-evidence-for-convergent-evolution-of-a-key-trait-underlying-divergence-in-island-birds
#14
Elizabeth A Cooper, J Albert C Uy
Reproductive isolation can be initiated by changes in one or a few key traits that prevent random mating among individuals in a population. During the early stages of speciation, when isolation is often incomplete, there will be a heterogeneous pattern of differentiation across regions of the genome between diverging populations, with loci controlling these key traits appearing the most distinct as a result of strong diversifying selection. In this study, we used Illumina-sequenced ddRAD tags to identify genome-wide patterns of differentiation in three recently-diverged island populations of the Monarcha castaneiventris ycatcher of the Solomon Islands...
March 28, 2017: Molecular Ecology
https://www.readbyqxmd.com/read/28360400/cdkn2a-and-mc1r-variants-found-in-cypriot-patients-diagnosed-with-cutaneous-melanoma
#15
Georgia Koulermou, Christos Shammas, Andreas Vassiliou, Tassos C Kyriakides, Constantina Costi, Vassos Neocleous, Leonidas A Phylactou, Maria Pantelidou
The prevalence of genetic variants associated to cutaneous melanoma (CM) has never been determined within Cypriot melanomas. This study evaluates the frequency of variants in cyclin-dependent kinase inhibitor 2A (CDKN2A) and melanocortin-1 receptor (MC1R) in 32 patients diagnosed with CM. Other characteristics and risk factors were also assessed. CDKN2A p.Ala148Thr was detected in three of 32 patients, while the control group revealed no variations within CDKN2A. MC1R screening in 32 patients revealed the following variations: p...
March 2017: Journal of Genetics
https://www.readbyqxmd.com/read/28356453/the-melanocortin-system-regulates-body-pigmentation-and-social-behaviour-in-a-colour-polymorphic-cichlid-fish
#16
Peter D Dijkstra, Sean M Maguire, Rayna M Harris, Agosto A Rodriguez, Ross S DeAngelis, Stephanie A Flores, Hans A Hofmann
The melanocortin system is a neuroendocrine system that regulates a range of physiological and behavioural processes. We examined the extent to which the melanocortin system simultaneously regulates colour and behaviour in the cichlid fish Astatotilapia burtoni We found that yellow males are more aggressive than blue males, in line with previous studies. We then found that exogenous α-melanocyte-stimulating hormone (α-MSH) increases yellowness of the body and dispersal of xanthophore pigments in both morphs...
March 29, 2017: Proceedings. Biological Sciences
https://www.readbyqxmd.com/read/28355309/the-differential-expression-of-mc1r-regulators-in-dorsal-and-ventral-quail-plumages-during-embryogenesis-implications-for-plumage-pattern-formation
#17
Thanh-Lan Gluckman, Nicholas I Mundy
Melanin pigmentation patterns are ubiquitous in animals and function in crypsis, physical protection, thermoregulation and signalling. In vertebrates, pigmentation patterns formed over large body regions as well as within appendages (hair/feathers) may be due to the differential distribution of pigment producing cells (melanocytes) and/or regulation of the melanin synthesis pathway. We took advantage of the pigmentation patterns of Japanese quail embryos (pale ventrum and patterned feathers dorsally) to explore the role of genes and their transcripts in regulating the function of the melanocortin-1-receptor (MC1R) via 1...
2017: PloS One
https://www.readbyqxmd.com/read/28323301/genetic-variation-of-the-bronze-locus-mc1r-in-turkeys-from-southern-brazil
#18
Josmael Corso, Diego Hepp, Mônica C Ledur, Jane O Peixoto, Nelson J R Fagundes, Thales R O Freitas
Domestic turkeys present several color phenotypes controlled by at least five genetic loci, but only one of these has been identified precisely: the bronze locus, which turned out to be the melanocortin-1 receptor (MC1R) gene. MC1R variation is important for breeders interested in maintaining or developing different color varieties. In this study, we sequenced most of the MC1R gene from 16 White Holland (the main commercial turkey variety) and 19 pigmented turkeys from southern Brazil with two purposes. The first was to describe the MC1R diversity in White Holland turkeys, which may serve as reservoirs of genetic diversity at this locus...
January 2017: Genetics and Molecular Biology
https://www.readbyqxmd.com/read/28292562/a-quantitative-analysis-of-multilineage-differentiating-stress-enduring-muse-cells-in-human-adipose-tissue-and-efficacy-of-melanocytes-induction
#19
Takeshi Yamauchi, Kenshi Yamasaki, Kenichiro Tsuchiyama, Saaya Koike, Setsuya Aiba
We have shown previously that multilineage-differentiating stress-enduring (Muse) cells in neonatal fibroblasts can differentiate into functional melanocytes. In this study, we quantitate Muse cells in adipose-mesenchymal stem cells (adipose-MSCs) of human subcutaneous tissue obtained from 11 subjects of various ages, and measured efficacy of melanocytes induction from Adipose-MSC-derived Muse cells (hASC-Muse cells). There was a statistically significant negative correlation between the age of donors and the numbers of adipose-MSCs recovered per g fat as well as the percentage of SSEA3+ cells in the adipose-MSC populations, but isolated hASC-Muse cells showed pluripotency and growth curves equally regardless the age of donors...
June 2017: Journal of Dermatological Science
https://www.readbyqxmd.com/read/28275654/red-hair-mc1r-variants-and-risk-for-parkinson-s-disease-a-meta-analysis
#20
Xiqun Chen, Danielle Feng, Michael A Schwarzschild, Xiang Gao
Several studies have been conducted with mixed results since our initial report of increased Parkinson's disease risk in individuals with red hair and/or red hair-associated p.R151C variant of the MC1R gene, both of which confer high melanoma risk. We performed a meta-analysis of six publications on red hair, MC1R, and Parkinson's disease. We found that red hair (pooled odds ratios = 1.68, 95% confidence intervals: 1.07, 2.64) and p.R151C (pooled odds ratios = 1.10, 95% confidence intervals: 1.00, 1.21), but not p...
March 2017: Annals of Clinical and Translational Neurology
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