Melanocortin MC1 receptor in human genetics and model systems

Beaumont, Kimberley A., Wong, Shu S., Ainger, Stephen A., Liu, Yan Yan, Patel, Mira P., Millhauser, Glenn L., Smith, Jennifer J., Alewood, Paul F., Leonard, J. Helen and Sturm, Richard A. (2011) Melanocortin MC1 receptor in human genetics and model systems. European Journal of Pharmacology, 660 1: 103-110. doi:10.1016/j.ejphar.2010.11.040

Author Beaumont, Kimberley A.
Wong, Shu S.
Ainger, Stephen A.
Liu, Yan Yan
Patel, Mira P.
Millhauser, Glenn L.
Smith, Jennifer J.
Alewood, Paul F.
Leonard, J. Helen
Sturm, Richard A.
Title Melanocortin MC1 receptor in human genetics and model systems
Formatted title
Melanocortin MC1 receptor in human genetics and model systems
Journal name European Journal of Pharmacology   Check publisher's open access policy
ISSN 0014-2999
Publication date 2011-06-11
Sub-type Critical review of research, literature review, critical commentary
DOI 10.1016/j.ejphar.2010.11.040
Volume 660
Issue 1
Start page 103
End page 110
Total pages 8
Place of publication Amsterdam, Netherlands
Publisher Elsevier
Collection year 2012
Language eng
Formatted abstract
The melanocortin MC1 receptor is a G-protein coupled receptor expressed in the melanocytes of the skin and hair and is known for its key role in the regulation of human pigmentation. Melanocortin MC1 receptor activation after ultraviolet radiation exposure results in a switch from the red/yellow pheomelanin to the brown/black eumelanin pigment synthesis within cutaneous melanocytes; this pigment is then transferred to the surrounding keratinocytes of the skin. The increase in melanin maturation and uptake results in tanning of the skin, providing a physical protection of skin cells from ultraviolet radiation induced DNA damage. Melanocortin MC1 receptor polymorphism is widespread within the Caucasian population and some variant alleles are associated with red hair colour, fair skin, poor tanning and increased risk of skin cancer. Here we will discuss the use of mouse coat colour models, human genetic association studies, and in vitro cell culture studies to determine the complex functions of the melanocortin MC1 receptor and the molecular mechanisms underlying the association between melanocortin MC1 receptor variant alleles and the red hair colour phenotype. Recent research indicates that melanocortin MC1 receptor has many non-pigmentary functions, and that the increased risk of skin cancer conferred by melanocortin MC1 receptor variant alleles is to some extent independent of pigmentation phenotypes. The use of new transgenic mouse models, the study of novel melanocortin MC1 receptor response genes and the use of more advanced human skin models such as 3D skin reconstruction may provide key elements in understanding the pharmacogenetics of human melanocortin MC1 receptor polymorphism.
Keyword MC1R
Red hair colour
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Critical review of research, literature review, critical commentary
Collections: Official 2012 Collection
Institute for Molecular Bioscience - Publications
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