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Identification and Functional Analysis of Novel Variants of the Human Melanocortin 1 Receptor Found in Melanoma Patients by Ana B. Pérez Oliva; Lara P. Fernéndez; Carlos DeTorre; Cecilia Herráiz; Jorge A. Martínez-Escribano; Javier Benítez; José A. Lozano Teruel; José C. García-Borrón; Celia Jiménez-Cervantes; Gloria Ribas is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

What is Identification and Functional Analysis of Novel Variants of the Human Melanocortin 1 Receptor Found in Melanoma Patients about?

The melanocortin 1 receptor, a Gs proteincoupled receptor expressed in epidermal melanocytes, is a major determinant of skin pigmentation and phototype and an important contributor to melanoma risk. MC1R activation stimulates synthesis of black, strongly photoprotective eumelanin pigments. Several MC1R alleles are associated with red hair, fair skin, increased sensitivity to ultraviolet radiation, and increased skin cancer risk. The MC1R gene is highly polymorphic, but only a few naturally occurring alleles have been functionally characterized, which complicates the establishment of accurate correlations between the signaling properties of mutant alleles and defined cutaneous phenotypes. We report the functional characterization of six MC1R alleles found in Spanish melanoma patients. Two variants (c.152T4C, p.Val51Ala and c.865T4C, p.Cys289Arg) have never been described, and the others (c.112G4A, p.Val38Met; c.122C4T, p.Ser41Phe; c.383T4C, p.Met128Thr; and c.842A4G, p.Asn281Ser) have not been analyzed for function. p.Asn281Ser corresponds to a functionally silent polymorphism. The other mutations are associated with varying degrees of loss of function (LOF), from moderate decreases

Who reads Identification and Functional Analysis of Novel Variants of the Human Melanocortin 1 Receptor Found in Melanoma Patients?

Author

Ana B. Pérez Oliva; Lara P. Fernéndez; Carlos DeTorre; Cecilia Herráiz; Jorge A. Martínez-Escribano; Javier Benítez; José A. Lozano Teruel; José C. García-Borrón; Celia Jiménez-Cervantes; Gloria Ribas

Publisher

Hindawi Limited

Published

2009

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)