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https://www.readbyqxmd.com/read/27892516/in-vivo-coherent-raman-imaging-of-the-melanomagenesis-associated-pigment-pheomelanin
#1
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
#2
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
#3
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...
October 26, 2016: General and Comparative Endocrinology
https://www.readbyqxmd.com/read/27780108/bringing-colour-back-after-70-years-predicting-eye-and-hair-colour-from-skeletal-remains-of-world-war-ii-victims-using-the-hirisplex-system
#4
Lakshmi Chaitanya, Irena Zupanič Pajnič, Susan Walsh, Jože Balažic, Tomaž Zupanc, Manfred Kayser
Retrieving information about externally visible characteristics from DNA can provide investigative leads to find unknown perpetrators, and can also help in disaster victim and other missing person identification cases. Aiming for the application to both types of forensic casework, we previously developed and forensically validated the HIrisPlex test system enabling parallel DNA prediction of eye and hair colour. Although a recent proof-of-principle study demonstrated the general suitability of the HIrisPlex system for successfully analysing DNA from bones and teeth of various storage times and conditions, practical case applications to human remains are scarce...
October 6, 2016: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/27776349/genetic-profiling-of-a-rare-condition-co-occurrence-of-albinism-and-multiple-primary-melanoma-in-a-caucasian-family
#5
Simona De Summa, Michele Guida, Stefania Tommasi, Sabino Strippoli, Cristina Pellegrini, Maria Concetta Fargnoli, Brunella Pilato, Iole Natalicchio, Gabriella Guida, Rosamaria Pinto
Multiple primary melanoma (MPM) is a rare condition, whose genetic basis has not yet been clarified. Only 8-12% of MPM are due to germline mutations of CDKN2A. However, other genes (POT1, BRCA1/2, MC1R, MGMT) have been demonstrated to be involved in predisposition to this pathology.To our knowledge, this is the first family study based on two siblings with the rare coexistence of MPM and oculocutaneous albinism (OCA), an autosomal recessive disease characterized by the absence or decrease in pigmentation in the skin, hair, and eyes...
October 20, 2016: Oncotarget
https://www.readbyqxmd.com/read/27775197/survival-by-genotype-patterns-at-mc1r-are-not-black-and-white-at-the-white-sands-ecotone
#6
S Des Roches, R Sollmann, K Calhoun, A P Rothstein, E B Rosenblum
Measuring links among genotype, phenotype and survival in the wild has long been a focus of studies of adaptation. We conducted a 4-year capture-recapture study to measure survival by genotype and phenotype in the Southwestern Fence Lizard (Sceloporus cowlesi) at the White Sands ecotone (transition area between white sands and dark soil habitats). We report several unanticipated findings. First, in contrast with previous work showing that cryptic blanched coloration in S. cowlesi from the heart of the dunes is associated with mutations in the melanocortin-1 receptor gene (Mc1r), ecotonal S...
October 24, 2016: Molecular Ecology
https://www.readbyqxmd.com/read/27703696/a-novel-mc1r-allele-for-black-coat-colour-reveals-the-polynesian-ancestry-and-hybridization-patterns-of-hawaiian-feral-pigs
#7
Anna Linderholm, Daisy Spencer, Vincent Battista, Laurent Frantz, Ross Barnett, Robert C Fleischer, Helen F James, Dave Duffy, Jed P Sparks, David R Clements, Leif Andersson, Keith Dobney, Jennifer A Leonard, Greger Larson
Pigs (Sus scrofa) have played an important cultural role in Hawaii since Polynesians first introduced them in approximately AD 1200. Additional varieties of pigs were introduced following Captain Cook's arrival in Hawaii in 1778 and it has been suggested that the current pig population may descend primarily, or even exclusively, from European pigs. Although populations of feral pigs today are an important source of recreational hunting on all of the major islands, they also negatively impact native plants and animals...
September 2016: Royal Society Open Science
https://www.readbyqxmd.com/read/27698666/in-silico-analysis-of-gene-expression-network-components-underlying-pigmentation-phenotypes-in-the-python-identified-evolutionarily-conserved-clusters-of-transcription-factor-binding-sites
#8
Kristopher J L Irizarry, Randall L Bryden
Color variation provides the opportunity to investigate the genetic basis of evolution and selection. Reptiles are less studied than mammals. Comparative genomics approaches allow for knowledge gained in one species to be leveraged for use in another species. We describe a comparative vertebrate analysis of conserved regulatory modules in pythons aimed at assessing bioinformatics evidence that transcription factors important in mammalian pigmentation phenotypes may also be important in python pigmentation phenotypes...
2016: Advances in Bioinformatics
https://www.readbyqxmd.com/read/27694057/melanoma-targeting-with-99m-tc-n-pnp3-labeled-%C3%AE-melanocyte-stimulating-hormone-peptide-analogs-effects-of-cyclization-on-the-radiopharmaceutical-properties
#9
Davide Carta, Nicola Salvarese, Nicolò Morellato, Feng Gao, Wiebke Sihver, Hans Jurgen Pietzsch, Barbara Biondi, Paolo Ruzza, Fiorenzo Refosco, Debora Carpanese, Antonio Rosato, Cristina Bolzati
The purpose of this study was to evaluate the effect of cyclization on the biological profile of a [(99m)Tc(N)(PNP3)]-labeled α-melanocyte stimulating hormone peptide analog. A lactam bridge-cyclized H-Cys-Ahx-βAla(3)-c[Lys(4)-Glu-His-D-Phe-Arg-Trp-Glu(10)]-Arg(11)-Pro-Val-NH2 (NAP-NS2) and the corresponding linear H-Cys-Ahx-βAla-Nle-Asp-His-D-Phe-Arg-Trp-Gly-NH2 (NAP-NS1) peptide were synthetized, characterized by ESI-MS spectroscopy and their melanocortin-1 receptor (MC1R) binding affinity was determined in B16/F10 melanoma cells...
December 2016: Nuclear Medicine and Biology
https://www.readbyqxmd.com/read/27686787/evolution-and-phylogenetic-application-of-the-mc1r-gene-in-the-cobitoidea-teleostei-cypriniformes
#10
Qiong-Ying Tang, Li-Xia Shi, Fei Liu, Dan Yu, Huan-Zhang Liu
Fish of the superfamily Cobitoidea sensu stricto (namely loaches) exhibit extremely high diversity of color patterns, but so far little is known about their evolutionary mechanism. Melanocortin 1 receptor gene (MC1R) plays an important role during the synthesis of melanin and formation of animal body color patterns. In this study, we amplified and sequenced the partial MC1R gene for 44 loach individuals representing 31 species of four families. Phylogenetic analyses yielded a topology congruent with previous studies using multiple nuclear loci, showing that each of the four families was monophyletic with sister relationships of Botiidae+ (Cobitidae+(Balitoridae+Nemacheilidae))...
September 18, 2016: Dong Wu Xue Yan Jiu, Zoological Research
https://www.readbyqxmd.com/read/27683220/akap12-mediates-pka-induced-phosphorylation-of-atr-to-enhance-nucleotide-excision-repair
#11
Stuart G Jarrett, Erin M Wolf Horrell, John A D'Orazio
Loss-of-function in melanocortin 1 receptor (MC1R), a GS protein-coupled receptor that regulates signal transduction through cAMP and protein kinase A (PKA) in melanocytes, is a major inherited melanoma risk factor. Herein, we report a novel cAMP-mediated response for sensing and responding to UV-induced DNA damage regulated by A-kinase-anchoring protein 12 (AKAP12). AKAP12 is identified as a necessary participant in PKA-mediated phosphorylation of ataxia telangiectasia mutated and Rad3-related (ATR) at S435, a post-translational event required for cAMP-enhanced nucleotide excision repair (NER)...
September 28, 2016: Nucleic Acids Research
https://www.readbyqxmd.com/read/27671997/not-another-type-of-potato-mc1r-and-the-russet-coloration-of-burmese-cats
#12
N A Gustafson, B Gandolfi, L A Lyons
The Burmese is a breed of domestic cat that originated in Southeast Asia and was further developed in the United States. Variants in melanocortin 1 receptor (MC1R) causes common coat colour phenotypes in a variety of mammalian species but only limited colour variation in the domestic cat. Known as the extension (E) locus, melanocortin 1 receptor (MC1R) interacts with the agouti locus to produce the eumelanin and pheomelanin pigments. Recently, a novel reddish coloration, which is termed russet, was identified in the Burmese cat breed...
September 27, 2016: Animal Genetics
https://www.readbyqxmd.com/read/27664794/mc1r-variants-affect-the-expression-of-melanocortin-and-melanogenic-genes-and-the-association-between-melanocortin-genes-and-coloration
#13
Luis M San-Jose, Anne-Lyse Ducrest, Valérie Ducret, Céline Simon, Hannes Richter, Kazumasa Wakamatsu, Alexandre Roulin
The melanocortin-1 receptor (MC1R) gene influences coloration by altering the expression of genes acting downstream in the melanin synthesis. MC1R belongs to the melanocortin system, a genetic network coding for the ligands that regulate MC1R and other melanocortin receptors controlling different physiological and behavioural traits. The impact of MC1R variants on these regulatory melanocortin genes was never considered, even though MC1R mutations could alter the influence of these genes on coloration (e.g...
September 24, 2016: Molecular Ecology
https://www.readbyqxmd.com/read/27646882/pigmentation-independent-susceptibility-loci-for-actinic-keratosis-highlighted-by-compound-heterozygosity-analysis
#14
Kaiyin Zhong, Joris A C Verkouteren, Leonie C Jacobs, Andre G Uitterlinden, A Hofman, Fan Liu, Tamar Nijsten, Manfred Kayser
Actinic keratosis (AK) is a skin disease frequently found in European elderly and represents the precursor of cutaneous squamous cell carcinoma (SCC). Our recent genome-wide association study (GWAS) highlighted DNA variants in two pigmentation genes, IRF4 and MC1R, to confer AK risk in Europeans. Here, we performed a genome-wide search for relaxed forms of compound heterozygosity (CH) in association with AK using our recently developed software CollapsABEL. In a discovery dataset of 3,193 Dutch Europeans, a total of 15 genetic loci showed genome-wide significant association with AK (P < 1...
September 16, 2016: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/27602305/microendemicity-in-the-northern-hajar-mountains-of-oman-and-the-united-arab-emirates-with-the-description-of-two-new-species-of-geckos-of-the-genus-asaccus-squamata-phyllodactylidae
#15
Salvador Carranza, Marc Simó-Riudalbas, Sithum Jayasinghe, Thomas Wilms, Johannes Els
BACKGROUND: The Hajar Mountains of Oman and the United Arab Emirates (UAE) is the highest mountain range in Eastern Arabia. As a result of their old geological origin, geographical isolation, complex topography and local climate, these mountains provide an important refuge for endemic and relict species of plants and animals with strong Indo-Iranian affinities. Among vertebrates, the rock climbing nocturnal geckos of the genus Asaccus represent the genus with the highest number of endemic species in the Hajar Mountains...
2016: PeerJ
https://www.readbyqxmd.com/read/27582758/significance-of-the-melanocortin-1-and-endothelin-b-receptors-in-melanocyte-homeostasis-and-prevention-of-sun-induced-genotoxicity
#16
REVIEW
Viki B Swope, Zalfa A Abdel-Malek
The membrane bound melanocortin 1 receptor (MC1R), and the endothelin B receptor (ENDBR) are two G-protein coupled receptors that play important roles in constitutive regulation of melanocytes and their response to ultraviolet radiation (UVR), the main etiological factor for melanoma. The human MC1R is a Gs protein-coupled receptor, which is activated by its agonists α-melanocyte stimulating hormone (α-melanocortin; α-MSH) and adrenocorticotropic hormone (ACTH). The ENDBR is a Gq coupled-receptor, which is activated by Endothelin (ET)-3 during embryonic development, and ET-1 postnatally...
2016: Frontiers in Genetics
https://www.readbyqxmd.com/read/27555332/fear-of-pain-mediates-the-association-between-mc1r-genotype-and-dental-fear
#17
C L Randall, D W McNeil, J R Shaffer, R J Crout, R J Weyant, M L Marazita
Fear of pain is experienced in acute and chronic pain populations, as well as in the general population, and it affects numerous aspects of the orofacial pain experience, including pain intensity, pain-related disability, and pain behavior (e.g., avoidance). A related but separate construct-dental fear-is also experienced in the general population, and it influences dental treatment-seeking behavior and oral and systemic health. Minimal work has addressed the role of genetics in the etiologies of fear of pain and dental fear...
September 2016: Journal of Dental Research
https://www.readbyqxmd.com/read/27547348/born-blonde-a-recessive-loss-of-function-mutation-in-the-melanocortin-1-receptor-is-associated-with-cream-coat-coloration-in-antarctic-fur-seals
#18
Lucy Peters, Emily Humble, Nicole Kröcker, Birgit Fuchs, Jaume Forcada, Joseph I Hoffman
Although the genetic basis of color variation has been extensively studied in humans and domestic animals, the genetic polymorphisms responsible for different color morphs remain to be elucidated in many wild vertebrate species. For example, hypopigmentation has been observed in numerous marine mammal species but the underlying mutations have not been identified. A particularly compelling candidate gene for explaining color polymorphism is the melanocortin 1 receptor (MC1R), which plays a key role in the regulation of pigment production...
August 2016: Ecology and Evolution
https://www.readbyqxmd.com/read/27542347/detection-of-single-nucleotide-polymorphisms-snp-in-equine-coat-color-genes-using-snapshot-tm-multiplex-kit-or-pluronic-f-108-tri-block-copolymer-and-capillary-electrophoresis
#19
Lauren Martin, Natalie Damaso, DeEtta Mills
Molecular methods for detection of mammalian coat color phenotypes have expanded greatly within the past decade. Many phenotypes are associated with a single nucleotide polymorphism mutation in the genetic sequence. Traditionally, these mutations are detected through sequencing, hybridization assays or mini-sequencing. However, these techniques can be expensive and tedious. Previously, CE-SSCP using the F-108 polymer was able to distinguish SNPs for the melanocortin-1 receptor (mc1r) coat color gene in horses (Equus caballus) that differed by one nucleotide substitution...
August 20, 2016: Electrophoresis
https://www.readbyqxmd.com/read/27540956/detrimental-effects-of-melanocortin-1-receptor-mc1r-variants-on-the-clinical-outcomes-of-braf-v600-metastatic-melanoma-patients-treated-with-braf-inhibitors
#20
Michele Guida, Sabino Strippoli, Anna Ferretta, Nicola Bartolomeo, Letizia Porcelli, Immacolata Maida, Amalia Azzariti, Stefania Tommasi, Claudia Grieco, Stefania Guida, Anna Albano, Vito Lorusso, Gabriella Guida
Melanocortin-1 receptor (MC1R) plays a key role in skin pigmentation, and its variants are linked with a higher melanoma risk. The influence of MC1R variants on the outcomes of patients with metastatic melanoma (MM) treated with BRAF inhibitors (BRAFi) is unknown. We studied the MC1R status in a cohort of 53 consecutive BRAF-mutated patients with MM treated with BRAFi. We also evaluated the effect of vemurafenib in four (V600) BRAF melanoma cell lines with/without MC1R variants. We found a significant correlation between the presence of MC1R variants and worse outcomes in terms of both overall response rate (ORR; 59% versus 95%, P = 0...
November 2016: Pigment Cell & Melanoma Research
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