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Titolo:
Pleiotropic effects of the melanocortin 1 receptor (MC1R) gene on human pigmentation
Autore:
Flanagan, N; Healy, E; Ray, A; Philips, S; Todd, C; Jackson, IJ; Birch-Machin, MA; Rees, JL;
Indirizzi:
Univ Newcastle Upon Tyne, Dept Dermatol, Newcastle Upon Tyne NE2 4HH, Tyne& Wear, England Univ Newcastle Upon Tyne Newcastle Upon Tyne Tyne & Wear England NE2 4HH Univ Southampton, Southampton Gen Hosp, Southampton SO16 6YD, Hants, England Univ Southampton Southampton Hants England SO16 6YD 6 6YD, Hants, England Western Gen Hosp, MRC, Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland Western Gen Hosp Edinburgh Midlothian Scotland EH4 2XU dlothian, Scotland Univ Edinburgh, Dept Dermatol, Royal Infirm, Edinburgh EH3 9YW, Midlothian, Scotland Univ Edinburgh Edinburgh Midlothian Scotland EH3 9YW Midlothian, Scotland
Titolo Testata:
HUMAN MOLECULAR GENETICS
fascicolo: 17, volume: 9, anno: 2000,
pagine: 2531 - 2537
SICI:
0964-6906(20001012)9:17<2531:PEOTM1>2.0.ZU;2-A
Fonte:
ISI
Lingua:
ENG
Soggetto:
MOUSE AGOUTI GENE; COAT COLOR; RED HAIR; MSH RECEPTOR; SKIN TYPE; MUTATIONS; VARIANT; POLYMORPHISM; EXTENSION; MELANOMA;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
26
Recensione:
Indirizzi per estratti:
Indirizzo: Flanagan, N Univ Newcastle Upon Tyne, Dept Dermatol, Framlington Pl, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England Univ Newcastle Upon Tyne Framlington Pl Newcastle Upon Tyne Tyne & Wear England NE2 4HH
Citazione:
N. Flanagan et al., "Pleiotropic effects of the melanocortin 1 receptor (MC1R) gene on human pigmentation", HUM MOL GEN, 9(17), 2000, pp. 2531-2537

Abstract

Variants of the melanocortin 1 receptor(MC1R) gene are common in individuals with red hair and fair skin, but the relative contribution to these pigmentary traits in heterozygotes, homozygotes and compound heterozygotes for variants at this locus from the multiple alleles present in Caucasian populations is unclear. We have investigated 174 individuals from 11 large kindreds with a preponderance of red hair and an additional 99 unrelated redheads, for MC1R variants and have confirmed that red hair is usually inherited as a recessive characteristic with the R151C, R160W, D294H, R142H, 86insA and 537insC alleles at this locus. The V60L variant, which is common in the population may act as a partially penetrant recessive allele, These individuals plus 167 randomly ascertained Caucasians demonstrate that heterozygotes for two alleles, R151C and 537insC, have a significantly elevated risk ofred hair, The shade of red hair frequently differs in heterozygotes from that in homozygotes/compound heterozygotes and there is also evidence for a heterozygote effect on beard hair colour, skin type and freckling. The dataprovide evidence for a dosage effect of MC1R variants on hair as well as skin colour.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 02/07/20 alle ore 22:37:00