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

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

doi:10.1002/humu.9150

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

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

Risultato della ricerca: Contributo in rivista › Articolo in rivista

24 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 originale	English
pagine (da-a)	655-655
Numero di pagine	1
Rivista	Human Mutation
Volume	21
DOI	https://doi.org/10.1002/humu.9150
Stato di pubblicazione	Pubblicato - 2003

Keywords

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

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

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).",

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author = "Mc Fargnoli and S Chimenti and G Keller and H H{\"o}fler and Ketty Peris",

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TY - JOUR

T1 - Identification of four novel melanocortin 1 receptor (MC1R) gene variants in a Mediterranean population

AU - Fargnoli, Mc

AU - Chimenti, S

AU - Keller, G

AU - Höfler, H

AU - Peris, Ketty

PY - 2003

Y1 - 2003

N2 - 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).

AB - 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).

KW - Alleles

KW - DNA

KW - DNA Mutational Analysis

KW - Female

KW - Gene Frequency

KW - Genetic Variation

KW - Humans

KW - Italy

KW - Male

KW - Mutation, Missense

KW - Receptor, Melanocortin, Type 1

KW - Alleles

KW - DNA

KW - DNA Mutational Analysis

KW - Female

KW - Gene Frequency

KW - Genetic Variation

KW - Humans

KW - Italy

KW - Male

KW - Mutation, Missense

KW - Receptor, Melanocortin, Type 1

UR - http://hdl.handle.net/10807/57655

U2 - 10.1002/humu.9150

DO - 10.1002/humu.9150

M3 - Article

SN - 1059-7794

VL - 21

SP - 655

EP - 655

JO - Human Mutation

JF - Human Mutation

ER -

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

Abstract

Keywords

OSS delle Nazioni Unite

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