Melanocortin 1 receptor mediates melanin production by interacting with the BBSome in primary cilia.
PLoS BiologyProduction of melanin pigments is a protective mechanism of the skin against ultraviolet (UV)-induced damage and carcinogenesis. However, the molecular basis for melanogenesis is still poorly understood.
Xiaoyu Tian +14 more
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A Novel Pale-Yellow Coat Color of Rabbits Generated viaMC1R Mutation With CRISPR/Cas9 System
Frontiers in Genetics, 2019 Coat color is of great importance in animal breed characteristics; it is not only a significant productive trait but also an indispensable economic trait, especially in the rabbit industry.
Ning Xiao +8 more
doaj +1 more source
Genome-wide screening of mouse knockouts reveals novel genes required for normal integumentary and oculocutaneous structure and function. [PDF]
, 2019 Oculocutaneous syndromes are often due to mutations in single genes. In some cases, mouse models for these diseases exist in spontaneously occurring mutations, or in mice resulting from forward mutatagenesis screens.
Adissu, Hibret +15 more
core
The Alpaca Melanocortin 1 Receptor: Gene Mutations, Transcripts, and Relative Levels of Expression in Ventral Skin Biopsies [PDF]
, 2015 The objectives of the present study were to characterize the MC1R gene, its transcripts and the single nucleotide polymorphisms (SNPs) associated with coat color in alpaca. Full length cDNA amplification revealed the presence of two transcripts, named as
BATHRACHALAM, CHANDRAMOHAN +3 more
core +3 more sources
A novel spectral method for inferring general diploid selection from time series genetic data
, 2014 The increased availability of time series genetic variation data from experimental evolution studies and ancient DNA samples has created new opportunities to identify genomic regions under selective pressure and to estimate their associated fitness ...
Bhaskar, Anand +2 more
core +1 more source
Some Molecular and Clinical Aspects of Genetic Predisposition to Malignant Melanoma and Tumours of Various Site of Origin [PDF]
, 2007 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.
Tadeusz Dębniak
core +2 more sources
Lack of somatic alterations of MC1R in primary melanoma [PDF]
Pigment Cell & Melanoma Research, 2008 SummaryGermline variation of the melanocortin 1 receptor gene (MC1R) is a risk factor for cutaneous melanoma. Recent studies have indicated that the risk is significantly higher for melanomas with somatic BRAF mutations, suggesting that MC1R variants may have a more specific role than their demonstrated effects on skin and hair pigmentation. To address
Kim, R. D. +2 more
openaire +3 more sources
Cell Biochemistry and Function, Volume 44, Issue 4, April 2026.ABSTRACT The melanocortin‐3 receptor (MC3R) and the melanocortin‐4 receptor (MC4R), both expressed in hypothalamic nuclei, are key downstream effectors of leptin signaling and play important roles in energy homeostasis. While pathogenic variants in the MC4R gene represent the most common cause of monogenic obesity, the clinical significance of MC3R ...
Niels Vos +8 more
wiley +1 more source
CDKN2A and MC1R analysis in amelanotic and pigmented melanoma
Melanoma Research, 2009 Amelanotic melanoma (AM) is a rare subtype of melanoma with little or no clinically visible pigment; it is more difficult to diagnose than pigmented melanoma (PM), and has a worse prognosis. In the attempt to find a genetic explanation for the distinction between AM and PM, we conducted a case-case study, matching AM and PM patients, and testing them ...
GHIORZO, PAOLA +14 more
openaire +6 more sources
Analysis of Genetic Basis of the Red Coat Colour of Crossbred of Duroc and Ding'an Pig
Guangdong nongye kexue【Objective】The melanocortin 1 receptor (MC1R) plays a critical role in mammalian pigmentation and coat color formation. Different MC1R alleles are associated with various coat color patterns in pigs.
Sitong ZHU +6 more
doaj +1 more source