The melanocortin 1 receptor (MC1R) gene is a major determinant of human pigmentation and specific allelic variants have been associated with red hair and sun sensitive skin types as well as increased skin cancer risk in Caucasian individuals. We screened for allelic variants the entire MC1R coding region of 100 unrelated individuals sampled from an Italian population who has darker pigmentary traits than populations analyzed to date. Twenty MC1R variants were identified, eighteen located at non-synonymous sites and two at synonymous sites. We report four novel MC1R allelic variants: C35Y (g.104G>A), V38M (g.112G>A), L44V (g.130C>G) and I120T (g.359T>C).
Fargnoli, M., Chimenti, S., Keller, G., Höfler, H., Peris, K., Identification of four novel melanocortin 1 receptor (MC1R) gene variants in a Mediterranean population, <<HUMAN MUTATION>>, 2003; 21 (6): 655-655. [doi:10.1002/humu.9150] [http://hdl.handle.net/10807/57655]