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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
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
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...
August 31, 2016: Nuclear Medicine and Biology
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
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
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
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
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
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
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
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
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
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
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 polymorphisms 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 is unknown. We studied the MC1R status in a cohort of 53 consecutive BRAF-mutated MM patients 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 polymorphisms and a worse outcomes in terms of both ORR (59%vs95%, p...
August 19, 2016: Pigment Cell & Melanoma Research
Aneta Sitek, Iwona Rosset, Elżbieta Żądzińska, Anna Siewierska-Górska, Edyta Pietrowska, Dominik Strapagiel
Background: Human pigmentation, similarly as many other biological features, changes in the course of post-natal ontogenesis, while in case of hair, pigmentation changes are more distinctive than in the skin or the iris. It is therefore extremely important to identify the genes, involved in the constitution of human pigmentation features at various stages of ontogenesis. Results of this type of analyses are of high practical significance in forensic study because they enable to create mathematical tools, allowing for prediction of the pigmentation phenotype, based on DNA studies...
August 17, 2016: Anthropologischer Anzeiger; Bericht über die Biologisch-anthropologische Literatur
Justyna M Wierzbicka, Michał A Żmijewski, Anna Piotrowska, Boguslaw Nedoszytko, Magdalena Lange, Robert C Tuckey, Andrzej T Slominski
Ultraviolet radiation B stimulates both the production of vitamin D3 in the skin and the activation of the skin analog of the hypothalamic-pituitary-adrenal axis (HPA) as well as the central HPA. Since the role of vitamin D3 in the regulation of the HPA is largely unknown, we investigated the impact of 1,25(OH)2D3 and its noncalcemic analogs, 20(OH)D3 and 21(OH)pD, on the expression of the local HPA in human epidermal keratinocytes. The noncalcemic analogs showed similar efficacy to 1,25(OH)2D3 in stimulating the expression of neuropeptides, CRF, urocortins and POMC, and their receptors, CRFR1, CRFR2, MC1R, MC2R, MC3R and MC4R...
December 5, 2016: Molecular and Cellular Endocrinology
Ahmed H Mahmoud, Ashraf M Mashaly, Khalid M Al-Anazi, Ahmed M Rady, Amgad A Saleh
The melanocortin-1 receptor (MC1R) is one of the key genes involved in regulating mammalian eyes, skin and hair color. The MC1R protein is located on the plasma membrane of melanocytes, specialized cells that produce the pigment melanin through melanogenesis process. In this study, the complete coding region of MC1R gene including parts of 3' and 5' untranslated regions was amplified and sequenced from three indigenous Saudi sheep; Najdi (generally black, n = 41), Naeimi (generally brown, n = 36) and Herri (generally white, n = 18), in addition to 13 Sawaknee sheep, an exotic brown breed originally from Sudan...
August 4, 2016: Asian-Australasian Journal of Animal Sciences
Max E Seaton, Brodie A Parent, Ravi F Sood, Mark M Wurfel, Lara A Muffley, Grant E O'Keefe, Nicole S Gibran
OBJECTIVE: To determine if melanocortin-1 receptor (MC1R) single nucleotide polymorphisms (SNPs) are associated with complicated sepsis after trauma. BACKGROUND: Nosocomial infections are an important cause of morbidity and mortality after trauma. Several SNPs in inflammation-related genes have been associated with sepsis. MC1R is an anti-inflammatory mediator that may be involved in the immune response after trauma. METHODS: We genotyped 8 common MC1R SNPs in genomic DNA from subjects enrolled in a previously reported prospective cohort study...
August 2, 2016: Shock
Victor J Hruby
Design of biologically active peptides is of critical importance for the development of potent, selective, nontoxic bioavailable drugs. A major approach that has been developed to accomplish this is the development of methods for the design and synthesis of a wide variety of cyclic peptides and peptidomimetics. In this short and general review, we outline the methods that have been developed for cyclization of peptides and how these have been used for peptide and peptidomimetic design using the melanotropin peptides and melanocortin receptors MC1R, MC3R, MC4R and MC5R to illustrate aspects of this approach...
August 3, 2016: Biopolymers
C Mangas, M Potrony, C Mainetti, E Bianchi, P Carrozza Merlani, A Mancarella Eberhardt, E Maspoli-Postizzi, G Marazza, A Marcollo-Pini, F Pelloni, C Sessa, B Simona, J A Puig-Butillé, C Badenas, S Puig
BACKGROUND: Nearly 10% of all cases of cutaneous melanoma (CM) occur in patients with a personal or family history of the disease. OBJECTIVES: To obtain information about genetic predisposition to CM in Ticino, the southern region of Switzerland, a zone with moderate-to-high CM incidence. METHODS: We identified germline mutations in highly CM-associated genes (CDKN2A and CDK4) and low/medium-penetrance variants (MC1R and MITF) in patients with multiple primary CMs or individuals with one or more CM and a positive family history for CM or pancreatic cancer among first- or second-degree relatives...
July 30, 2016: British Journal of Dermatology
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