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https://www.readbyqxmd.com/read/29206201/selection-on-the-major-color-gene-melanocortin-1-receptor-shaped-the-evolution-of-the-melanocortin-system-genes
#1
Linda Dib, Luis M San-Jose, Anne-Lyse Ducrest, Nicolas Salamin, Alexandre Roulin
Modular genetic systems and networks have complex evolutionary histories shaped by selection acting on single genes as well as on their integrated function within the network. However, uncovering molecular coevolution requires the detection of coevolving sites in sequences. Detailed knowledge of the functions of each gene in the system is also necessary to identify the selective agents driving coevolution. Using recently developed computational tools, we investigated the effect of positive selection on the coevolution of ten major genes in the melanocortin system, responsible for multiple physiological functions and human diseases...
December 5, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29190509/genetic-determinants-of-freckle-occurrence-in-the-spanish-population-towards-ephelides-prediction-from-human-dna-samples
#2
Barbara Hernando, Maria Victoria Ibañez, Julio Alberto Deserio-Cuesta, Raquel Soria-Navarro, Inca Vilar-Sastre, Conrado Martinez-Cadenas
Prediction of human pigmentation traits, one of the most differentiable externally visible characteristics among individuals, from biological samples represents a useful tool in the field of forensic DNA phenotyping. In spite of freckling being a relatively common pigmentation characteristic in Europeans, little is known about the genetic basis of this largely genetically determined phenotype in southern European populations. In this work, we explored the predictive capacity of eight freckle and sunlight sensitivity-related genes in 458 individuals (266 non-freckled controls and 192 freckled cases) from Spain...
November 23, 2017: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/29187628/the-genetic-basis-and-enigmatic-origin-of-melanic-polymorphism-in-pomarine-skuas-stercorarius-pomarinus
#3
Kirstin Janssen, Nicholas I Mundy
A key outstanding issue in adaptive evolution is the relationship between the genetics of intraspecific polymorphism and interspecific evolution. Here, we show that the pale/dark ventral plumage polymorphism that occurs in both the pomarine skua (Stercorarius pomarinus) and Arctic skua (S. parasiticus) is the result of convergent evolution at the same locus (MC1R), involving some of the same amino acid sites. The dark melanic MC1R allele in the pomarine skua is strongly divergent from the pale MC1R alleles...
December 13, 2017: Proceedings. Biological Sciences
https://www.readbyqxmd.com/read/29179997/elevated-cyclic-amp-levels-promote-brafca-pten-mouse-melanoma-growth-but-pcreb-is-negatively-correlated-with-human-melanoma-progression
#4
Carlos I Rodríguez, Edgardo Castro-Pérez, B Jack Longley, Vijayasaradhi Setaluri
Melanocyte development and differentiation are regulated by cAMP, which is produced by the adenylate cyclase (AC) enzyme upon activation of the melanocortin-1-receptor (MC1R). Individuals carrying single amino acid substitution variants of MC1R have impaired cAMP signaling and higher risk of melanoma. However, the contribution of AC to this risk is not clear. Downstream of AC, the phosphorylated transcription factor, cyclic AMP Responsive Element Binding Protein (pCREB), which is activated by protein kinase A, regulates the expression of several genes including the melanocyte master regulator MITF...
November 24, 2017: Cancer Letters
https://www.readbyqxmd.com/read/29178624/clinical-and-genetic-characteristics-of-xeroderma-pigmentosum-in-nepal
#5
Pauline Espi, Sudip Parajuli, Meriem Benfodda, Anne-Sophie Lebre, Upama Paudel, Anne Grange, Virginie Grybek, Thomas Grange, Nadem Soufir, Florent Grange
BACKGROUND: Little is known about xeroderma pigmentosum (XP) in Himalayan countries. OBJECTIVE: To describe clinical characteristics of XP in Nepal and investigate its genetic bases. METHODS: This study was carried out on all consecutive patients referred for XP to a Nepalese tertiary referral centre in 2014-2015. Clinical data were collected using a standardized questionnaire. DNA was extracted from salivary samples and next generation sequencing (NGS) was conducted using a panel covering all 8 known XP genes (classical XP (XPA to XPG) and XP variant) and a skin cancer modifier gene, the melanocortin 1 receptor gene (MC1R)...
November 24, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/29152323/new-melanocortin-like-peptide-of-e-coli-can-suppress-inflammation-via-the-mammalian-melanocortin-1-receptor-mc1r-possible-endocrine-like-function-for-microbes-of-the-gut
#6
Xiaoling Qiang, Anthony S Liotta, Joseph Shiloach, J C Gutierrez, Haichao Wang, Mahendar Ochani, Kanta Ochani, Huan Yang, Aviva Rabin, Derek LeRoith, Maxine A Lesniak, Markus Böhm, Christian Maaser, Klaus Kannengiesser, Mark Donowitz, Shervin Rabizadeh, Christopher J Czura, Kevin J Tracey, Mark Westlake, Aida Zarfeshani, Syed F Mehdi, Ann Danoff, Xueliang Ge, Suparna Sanyal, Gary J Schwartz, Jesse Roth
E. coli releases a 33 amino acid peptide melanocortin-like peptide of E. coli (MECO-1) that is identical to the C-terminus of the E. coli elongation factor-G (EF-G) and has interesting similarities to two prominent mammalian melanocortin hormones, alpha-melanocyte-stimulating hormone (alpha-MSH) and adrenocorticotropin (ACTH). Note that MECO-1 lacks HFRW, the common pharmacophore of the known mammalian melanocortin peptides. MECO-1 and the two hormones were equally effective in severely blunting release of cytokines (HMGB1 and TNF) from macrophage-like cells in response to (i) endotoxin (lipopolysaccharide) or (ii) pro-inflammatory cytokine HMGB-1...
2017: NPJ Biofilms and Microbiomes
https://www.readbyqxmd.com/read/29145845/network-pharmacological-mechanisms-of-vernonia-anthelmintica-l-in-the-treatment-of-vitiligo-isorhamnetin-induction-of-melanogenesis-via-up-regulation-of-melanin-biosynthetic-genes
#7
Ji Ye Wang, Hong Chen, Yin Yin Wang, Xiao Qin Wang, Han Ying Chen, Mei Zhang, Yun Tang, Bo Zhang
BACKGROUND: Vitiligo is a long-term skin disease characterized by the loss of pigment in the skin. The current therapeutic approaches are limited. Although the anti-vitiligo mechanisms of Vernonia anthelmintica (L.) remain ambiguous, the herb has been broadly used in Uyghur hospitals to treat vitiligo. The overall objective of the present study aims to identify the potential lead compounds from Vernonia anthelmintica (L.) in the treatment of vitiligo via an oral route as well as the melanogenic mechanisms in the systematic approaches in silico of admetSAR and substructure-drug-target network-based inference (SDTNBI)...
November 16, 2017: BMC Systems Biology
https://www.readbyqxmd.com/read/29124692/ultraviolet-radiations-skin-defense-damage-mechanism
#8
Dheeraj Mohania, Shikha Chandel, Parveen Kumar, Vivek Verma, Kumar Digvijay, Deepika Tripathi, Khushboo Choudhury, Sandeep Kumar Mitten, Dilip Shah
UV-radiations are the invisible part of light spectra having a wavelength between visible rays and X-rays. Based on wavelength, UV rays are subdivided into UV-A (320-400 nm), UV-B (280-320 nm) and UV-C (200-280 nm). Ultraviolet rays can have both harmful and beneficial effects. UV-C has the property of ionization thus acting as a strong mutagen, which can cause immune-mediated disease and cancer in adverse cases. Numbers of genetic factors have been identified in human involved in inducing skin cancer from UV-radiations...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29094944/design-of-mc1r-selective-%C3%AE-msh-analogues-with-canonical-amino-acids-leads-to-potency-and-pigmentation
#9
Yang Zhou, Saghar Mowlazadeh Haghighi, Ioanna Zoi, Jonathon R Sawyer, Victor J Hruby, Minying Cai
Melanoma is a lethal form of skin cancer. Skin pigmentation, which is regulated by the melanocortin 1 receptor (MC1R), is an effective protection against melanoma. However, the endogenous MC1R agonists lack selectivity for the MC1R and thus can have side effects. The use of noncanonical amino acids in previous MC1R ligand development raises safety concerns. Here we report the development of the first potent and selective hMC1R agonist with only canonical amino acids. Using γ-MSH as a template, we developed a peptide, [Leu(3), Leu(7), Phe(8)]-γ-MSH-NH2 (compound 5), which is 16-fold selective for the hMC1R (EC50 = 4...
November 13, 2017: Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/29093993/ancient-divergence-time-estimates-in-eutropis-rugifera-support-the-existence-of-pleistocene-barriers-on-the-exposed-sunda-shelf
#10
Benjamin R Karin, Indraneil Das, Todd R Jackman, Aaron M Bauer
Episodic sea level changes that repeatedly exposed and inundated the Sunda Shelf characterize the Pleistocene. Available evidence points to a more xeric central Sunda Shelf during periods of low sea levels, and despite the broad land connections that persisted during this time, some organisms are assumed to have faced barriers to dispersal between land-masses on the Sunda Shelf. Eutropis rugifera is a secretive, forest adapted scincid lizard that ranges across the Sunda Shelf. In this study, we sequenced one mitochondrial (ND2) and four nuclear (BRCA1, BRCA2, RAG1, and MC1R) markers and generated a time-calibrated phylogeny in BEAST to test whether divergence times between Sundaic populations of E...
2017: PeerJ
https://www.readbyqxmd.com/read/29081790/the-melim-minipig-an-original-spontaneous-model-to-explore-cutaneous-melanoma-genetic-basis
#11
REVIEW
Emmanuelle Bourneuf
Melanoma is the deadliest skin cancer and is a major public health concern with a growing incidence worldwide. As for other complex diseases, animal models are needed in order to better understand the mechanisms leading to pathology, identify potential biomarkers to be used in the clinics, and eventually molecular targets for therapeutic solutions. Cutaneous melanoma, arising from skin melanocytes, is mainly caused by environmental factors such as UV radiation; however a significant genetic component participates in the etiology of the disease...
2017: Frontiers in Genetics
https://www.readbyqxmd.com/read/29061376/heterogeneity-of-braf-nras-and-tert-promoter-mutational-status-in-multiple-melanomas-and-association-with-mc1r-genotype-findings-from-molecular-and-immunohistochemical-analysis
#12
Cristina Pellegrini, Lucia Di Nardo, Gianluca Cipolloni, Claudia Martorelli, Marina De Padova, Ambra Antonini, Maria Giovanna Maturo, Laura Del Regno, Sara Strafella, Tamara Micantonio, Pietro Leocata, Ketty Peris, Maria Concetta Fargnoli
Data on somatic heterogeneity and germline-somatic interaction in multiple primary melanoma (MPM) patients are limited. We investigated the mutational status of BRAF, NRAS, and TERT promoter genes, in 97 melanomas of 44 MPM patients and compared molecular and immunohistochemical findings. We further evaluated the association of somatic alterations with the germline MC1R genotype. Mutations in BRAF gene were identified in 41.2% (40/97) of melanomas, in NRAS in 2.1% (2/97), and in TERT promoter in 19.6% (19/97)...
October 20, 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/29054604/susceptibility-loci-associated-cutaneous-squamous-cell-carcinoma-invasiveness
#13
Wei Wang, Eric Jorgenson, Alice S Whittemore, Maryam M Asgari
Genome-wide association studies (GWAS) have identified genetic loci associated with cutaneous squamous cell carcinoma (cSCC) risk, but single nucleotide polymorphisms (SNP) associations with cSCC invasiveness have not been investigated. We examined associations between cSCC invasiveness and 23 reported SNPs among 67,833 non-Hispanic white subjects. Additionally, we performed a genome-wide scan and identified one SNP with significantly different frequencies in 5,724 subjects with at least one invasive tumor and 1,943 subjects with in-situ tumors only...
October 17, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/29044987/sticky-fingers-at-work-palmitoylation-dependent-mc1r-activation
#14
Jose Carlos Garcia-Borron, Celia Jimenez-Cervantes
No abstract text is available yet for this article.
October 17, 2017: Pigment Cell & Melanoma Research
https://www.readbyqxmd.com/read/29020973/the-%C3%AE-melanocyte-stimulating-hormone-peroxisome-proliferator-activated-receptor-%C3%AE-pathway-down-regulates-proliferation-in-melanoma-cell-lines
#15
Enrica Flori, Eleonora Rosati, Giorgia Cardinali, Daniela Kovacs, Barbara Bellei, Mauro Picardo, Vittoria Maresca
BACKGROUND: The α-Melanocyte Stimulating Hormone (αMSH)/Melanocortin-1 receptor (MC1R) interaction promotes melanogenesis through the cAMP/PKA pathway. The direct induction of this pathway by Forskolin (FSK) is also known to enhance melanocyte proliferation. αMSH acts as a mitogenic agent in melanocytes and its effect on proliferation of melanoma cells is less known. We previously identified the αMSH/Peroxisome Proliferator Activated Receptor (PPARγ) pathway as a new pathway on the B16-F10 mouse melanoma cell line...
October 11, 2017: Journal of Experimental & Clinical Cancer Research: CR
https://www.readbyqxmd.com/read/28972038/comparative-transcriptome-and-histological-analyses-provide-insights-into-the-prenatal-skin-pigmentation-in-goat-capra-hircus
#16
Hangxing Ren, Gaofu Wang, Jing Jiang, Jie Li, Lin Fu, Liangjia Liu, Nianfu Li, Jinhong Zhao, Xiaoyan Sun, Li Zhang, Haiyan Zhang, Peng Zhou
The Youzhou dark goat is the natural mutant characterizing the dark skin of whole body including the visible mucous membranes. In the present study, we characterized 100-day-old fetal skin at the histomorphological and transcriptomic levels in dark-skinned (Youzhou Dark goat) and white-skinned (Yudong White goat) goats using deep RNA-sequencing, qPCR, and histological methods. Histological analysis indicated that there were marked differences in both melanin distribution and epidermal ultrastructure between the hyperpigmented and normal skin in two breeds of goat...
September 29, 2017: Physiological Genomics
https://www.readbyqxmd.com/read/28963476/comparative-transcriptome-analysis-of-mink-neovison-vison-skin-reveals-the-key-genes-involved-in-the-melanogenesis-of-black-and-white-coat-colour
#17
Xingchao Song, Chao Xu, Zongyue Liu, Zhigang Yue, Linling Liu, Tongao Yang, Bo Cong, Fuhe Yang
Farmed mink (Neovison vison) is one of the most important fur-bearing species worldwide, and coat colour is a crucial qualitative characteristic that contributes to the economic value of the fur. To identify additional genes that may play important roles in coat colour regulation, Illumina/Solexa high-throughput sequencing technology was used to catalogue the global gene expression profiles in mink skin with two different coat colours (black and white). RNA-seq analysis indicated that a total of 12,557 genes were differentially expressed in black versus white minks, with 3,530 genes up-regulated and 9,027 genes down-regulated in black minks...
September 29, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28960463/mc1r-genotype-and-psoriasis-is-there-a-link-revealing-a-phenotypic-difference-a-pilot-study
#18
Stefania Guida, Caterina Foti, Michele Manganelli, Nicola Bartolomeo, Giovanni Pellacani, Domenico Bonamonte, Raffaele Filotico, Gabriella Guida
Psychological stress is known to trigger inflammatory skin diseases such as psoriasis. Recently, levels of hormones derived from pre-opiomelanocortin (POMC) were related with different types of psoriasis. (1) In particular, α -MSH, a POMC derivative, is known for its role in pigmentation and for its anti-inflammatory activity. Accordingly, it has been recently suggested for the treatment of imiquimod-induced psoriasis.(2,3) This article is protected by copyright. All rights reserved.
September 28, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28952157/digest-frog-spots-show-broken-receptors-might-work-harder
#19
Theresa M Grieco
Posso-Terranova and Andrés (2017) used harlequin poison frogs to investigate the genetic basis of pigmentation evolution and variation. Using a candidate gene approach, they clearly delimited the origins and distribution of MC1R haplotypes and associated them with key pigmentation phenotypes on multiple levels. They demonstrated that MC1R-related cellular phenotypes and associated protein truncations evolved at least twice to produce dark dorsal skin colors in different clades.
November 2017: Evolution; International Journal of Organic Evolution
https://www.readbyqxmd.com/read/28950052/melanocortin-1-receptor-mc1r-polymorphisms-influence-on-size-and-dermoscopic-features-of-nevi
#20
María Gabriela Vallone, Gemma Tell-Marti, Miriam Potrony, Aida Rebollo-Morell, Celia Badenas, Joan Anton Puig-Butille, Pol Gimenez-Xavier, Cristina Carrera, Josep Malvehy, Susana Puig
The melanocortin 1 receptor (MC1R) is a highly polymorphic gene. The loss-of-function MC1R variants ("R") have been strongly associated with red hair color phenotype and an increased melanoma risk. We sequenced the MC1R gene in 175 healthy individuals to assess the influence of MC1R on nevus phenotype. We identified that MC1R variant carriers had larger nevi both on the back [p-value = .016, adjusted for multiple parameters (adj. p-value)] and on the upper limbs (adj. p-value = .007). Specifically, we identified a positive association between the "R" MC1R variants and visible vessels in nevi [p-value = ...
September 26, 2017: Pigment Cell & Melanoma Research
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