Communicated by Mark H. Paalman
Mutation in Brief
Article first published online: 23 SEP 2003
Copyright © 2003 Wiley-Liss, Inc.
Volume 21, Issue 6, page 655, June 2003
How to Cite
Fargnoli, M. C., Chimenti, S., Keller, G., Höfler, H. and Peris, K. (2003), Identification of four novel melanocortin 1 receptor (MC1R) gene variants in a Mediterranean population. Hum. Mutat., 21: 655. doi: 10.1002/humu.9150
Online Citation:Human Mutation, Mutation in Brief #621 (2003) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/621.pdf
- Issue published online: 23 SEP 2003
- Article first published online: 23 SEP 2003
- Manuscript Accepted: 19 MAR 2003
- Manuscript Received: 23 JAN 2002
- Italian Ministry of University and Scientific Research. Grant Number: 2001068929_004
- Cited By
- melanocortin 1 receptor;
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). © 2003 Wiley-Liss, Inc.