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Researchers identify major freckle gene
Edward R. Winstead

The melanocortin-1-receptor gene is "the major freckle gene," according to a new study. Researchers at Leiden University Medical Center, The Netherlands, analyzed the MC1R gene in 960 individuals and identified 27 different forms. In the study, nearly everyone with freckles in childhood had at least one variant of MC1R. Those with two MC1R variants tended to have more freckling, the researchers found.

"MC1R gene variants are strongly associated with red hair and a poor tanning response and according to our study determine the presence of ephelides [freckles]," the researchers write in Human Molecular Genetics. "This suggests that in humans the MC1 receptor is a key regulator of pigmentation phenotype and sun sensitivity."

Jan-Nico Bouwes Bavinck and colleagues at Leiden University Medical Center also investigated the link between the gene and solar lentigines—skin lesions that are related to sun exposure but also have a genetic component. Freckles and solar lentigines are different types of pigmented lesions and may develop due to different factors.

MC1R gene variants "are a necessary factor to develop" freckles but play a less critical role in the development of solar lentigines, they write.

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Bastiaens, M. et al. The melanocortin-1-receptor gene is the major freckle gene. Hum Mol Genet 10, 1701-1708 (August 1, 2001).

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