نتایج جستجو برای: mc1r gene

تعداد نتایج: 1141632  

2012
Leah M. Ferrucci Brenda Cartmel Annette M. Molinaro Patricia B. Gordon David J. Leffell Allen E. Bale Susan T. Mayne

Basal cell carcinoma (BCC) incidence is increasing, particularly among adults under the age of 40 years. Pigment-related characteristics are associated with BCC in older populations, but epidemiologic studies among younger individuals and analyses of phenotype-genotype interactions are limited. We examined self-reported phenotypes and melanocortin 1 receptor gene (MC1R) variants in relation to ...

Journal: :International journal of cancer 2006
Jiali Han Peter Kraft Graham A Colditz Jason Wong David J Hunter

Melanocortin 1 receptor (MC1R) gene variants are associated with red hair and fair skin color. We assessed the associations of common MC1R genotypes with the risks of 3 types of skin cancer simultaneously in a nested case-control study within the Nurses' Health Study (219 melanoma, 286 squamous cell carcinoma (SCC), and 300 basal cell carcinoma (BCC) cases, and 873 controls). We found that the ...

2015
Ben Dorshorst Corneliu Henegar Xiaoping Liao Markus Sällman Almén Carl-Johan Rubin Shosuke Ito Kazumasa Wakamatsu Paul Stothard Brian Van Doormaal Graham Plastow Gregory S. Barsh Leif Andersson Jian-Feng Liu

Coat color in Holstein dairy cattle is primarily controlled by the melanocortin 1 receptor (MC1R) gene, a central determinant of black (eumelanin) vs. red/brown pheomelanin synthesis across animal species. The major MC1R alleles in Holsteins are Dominant Black (MC1RD) and Recessive Red (MC1Re). A novel form of dominant red coat color was first observed in an animal born in 1980. The mutation un...

Journal: :Immunobiology 2014
Fermín E González Marcos Ramírez Eva B Allerbring Nina Fasching Andreas Lundqvist Isabel Poschke Adnane Achour Flavio Salazar-Onfray

BACKGROUND Melanocortin 1 Receptor (MC1R) is expressed in a majority of melanoma biopsies and cell lines. We previously demonstrated that three hydrophobic low-affinity HLA-A2-restricted MC1R-derived peptides: MC1R291-298, MC1R244-252 and MC1R283-291 can elicit cytotoxic T-lymphocytes (CTL) responses from normal donor peripheral blood lymphocytes (PBL). Moreover, peptide-specific CTL recognized...

Journal: :Hereditary Cancer in Clinical Practice 2007
Tadeusz Dębniak

Based on epidemiological data we can assume that at least some malignant melanoma (MM) and breast cancer cases can be caused by the same genetic factors. CDKN2A, which encodes the p16 protein, a cyclin-dependent kinase inhibitor suppressing cell proliferation, is regarded as a major melanoma susceptibility gene and the literature has also implicated this gene in predisposition to breast cancer....

Journal: :Science 2006
Hopi E Hoekstra Rachel J Hirschmann Richard A Bundey Paul A Insel Janet P Crossland

Natural populations of beach mice exhibit a characteristic color pattern, relative to their mainland conspecifics, driven by natural selection for crypsis. We identified a derived, charge-changing amino acid mutation in the melanocortin-1 receptor (Mc1r) in beach mice, which decreases receptor function. In genetic crosses, allelic variation at Mc1r explains 9.8% to 36.4% of the variation in sev...

2016
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...

Journal: :The Journal of heredity 2012
Ana E Dobson Daniel J Schmidt Jane M Hughes

The genetic basis of plumage color variation has already been determined for many model species; however, the genetic mechanisms responsible for intraspecific color variation in the majority of wild-bird species are yet to be uncovered. The Australian magpie (Cracticus tibicen) is a large black and white passerine which is widely distributed across the Australian continent. The proportion of me...

2010
F. Demenais H. Mohamdi V. Chaudru A. M. Goldstein J. A. Newton Bishop D. T. Bishop P. A. Kanetsky N. K. Hayward E. Gillanders D. E. Elder M. F. Avril E. Azizi P. van Belle W. Bergman G. Bianchi-Scarrà B. Bressac-de Paillerets D. Calista C. Carrera J. Hansson M. Harland D. Hogg V. Höiom E. A. Holland C. Ingvar M. T. Landi J. M. Lang R. M. Mackie G. J. Mann M. E. Ming C. J. Njauw H. Olsson J. Palmer L. Pastorino S. Puig J. Randerson-Moor M. Stark H. Tsao M. A. Tucker P. van der Velden X. R. Yang N. Gruis

BACKGROUND Carrying the cyclin-dependent kinase inhibitor 2A (CDKN2A) germline mutations is associated with a high risk for melanoma. Penetrance of CDKN2A mutations is modified by pigmentation characteristics, nevus phenotypes, and some variants of the melanocortin-1 receptor gene (MC1R), which is known to have a role in the pigmentation process. However, investigation of the associations of bo...

Journal: :Genetics and molecular research : GMR 2012
D Hepp G L Gonçalves G R P Moreira T R O Freitas C T D C Martins T A Weimer D T Passos

The melanocortin 1 receptor (MC1R) gene has been described as responsible for the black color in some breeds of sheep, but little is known about its function in many colored breeds, particularly those with a wide range of pigmentation phenotypes. The Brazilian Creole is a local breed of sheep from southern Brazil that has a wide variety of wool colors. We examined the MC1R gene (Extension locus...

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