Identification of four novel melanocortin 1 receptor (MC1R) gene variants in a Mediterranean population

Ketty Peris, Mc Fargnoli, S Chimenti, G Keller, H Höfler

Risultato della ricerca: Contributo in rivistaArticolo in rivista

23 Citazioni (Scopus)

Abstract

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).
Lingua originaleEnglish
pagine (da-a)655-655
Numero di pagine1
RivistaHuman Mutation
Volume21
DOI
Stato di pubblicazionePubblicato - 2003

Keywords

  • Alleles
  • DNA
  • DNA Mutational Analysis
  • Female
  • Gene Frequency
  • Genetic Variation
  • Humans
  • Italy
  • Male
  • Mutation, Missense
  • Receptor, Melanocortin, Type 1

Fingerprint Entra nei temi di ricerca di 'Identification of four novel melanocortin 1 receptor (MC1R) gene variants in a Mediterranean population'. Insieme formano una fingerprint unica.

Cita questo