Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
MELANOCORTIN-1 RECEPTOR VARIANTS IN AN IRISH POPULATION
Autore:
SMITH R; HEALY E; SIDDIQUI S; FLANAGAN N; STEIJLEN PM; ROSDAHL I; JACQUES JP; ROGERS S; TURNER R; JACKSON IJ; BIRCHMACHIN MA; REES JL;
Indirizzi:
UNIV NEWCASTLE UPON TYNE,SCH MED,DEPT DERMATOL,FRAMLINGTON PL NEWCASTLE TYNE NE2 4HH TYNE & WEAR ENGLAND UNIV NEWCASTLE UPON TYNE,SCH MED,DEPT DERMATOL NEWCASTLE TYNE NE2 4HHTYNE & WEAR ENGLAND LINKOPING UNIV HOSP S-58185 LINKOPING SWEDEN UNIV NIJMEGEN HOSP NL-6500 HB NIJMEGEN NETHERLANDS CITY DUBLIN SKIN & CANC HOSP DUBLIN IRELAND MRC,HUMAN GENET UNIT EDINBURGH MIDLOTHIAN SCOTLAND
Titolo Testata:
Journal of investigative dermatology
fascicolo: 1, volume: 111, anno: 1998,
pagine: 119 - 122
SICI:
0022-202X(1998)111:1<119:MRVIAI>2.0.ZU;2-8
Fonte:
ISI
Lingua:
ENG
Soggetto:
MELANOCYTE-STIMULATING HORMONE; MOUSE AGOUTI GENE; COAT COLOR; HUMAN EPIDERMIS; SKIN; PIGMENTATION; PHEOMELANIN; EXPRESSION; EUMELANIN; CLONING;
Keywords:
GENETICS; HAIR COLOR; PIGMENTATION; SKIN TYPE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
29
Recensione:
Indirizzi per estratti:
Citazione:
R. Smith et al., "MELANOCORTIN-1 RECEPTOR VARIANTS IN AN IRISH POPULATION", Journal of investigative dermatology, 111(1), 1998, pp. 119-122

Abstract

The identification of an association between variants in the human melanocortin 1 receptor (MC1R) gene and red hair and fair skin, as well as the relation between variants of this gene and coat color in animals, suggests that the MC1R is an integral control point in the normal pigmentation phenotype, In order to further define the contribution of MC1R variants to pigmentation in a normal population, we have looked for alterations in this gene in series of individuals from a general Irish population, in whom there is a preponderance of individuals with fair skin type. Seventy-five per cent contained a variant in the MC1R gene, with 30% containing two variants. The Arg151Cys, Arg160Trp, and Asp294His variants were significantly associated with red hair (p = 0.0015, p < 0.001, and p < 0.005, respectively). Importantly, no individuals harboring two of these three variants did not have red hair, although some red-haired individuals only showed one alteration. The same three variants were also over-represented in individuals with light skin type as assessed using a modified Fitzpatrick scale. Despite these associations many subjects with dark hair/darker skin type harbored MC1R variants, but there was no evidence of any particular association ofvariants with the darker phenotype, The Asp294His variant was similarly associated with red hair in a Dutch population, but was infrequent in red-headed subjects from Sweden. The Asp294His variant was also significantly associated with nonmelanoma skin cancer in a U.K. population. The results show that the Arg151Cys, Arg160Trp, and Asp294His variants are of key significance in determining the pigmentary phenotype and response to ultraviolet radiation, and suggest that in many cases the red-haired component and in some cases fair skin type are inherited as a Mendelian recessive.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 12/07/20 alle ore 02:47:01