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Titolo:
Loss of function mutations of the human melanocortin 1 receptor are commonand are associated with red hair
Autore:
Schioth, HB; Phillips, SR; Rudzish, R; Birch-Machin, MA; Wikberg, JES; Rees, JL;
Indirizzi:
Uppsala Univ, Dept Pharmaceut Pharmacol, Uppsala, Sweden Uppsala Univ Uppsala Sweden Dept Pharmaceut Pharmacol, Uppsala, Sweden Melacure Therapeut AB, Uppsala, Sweden Melacure Therapeut AB Uppsala Sweden cure Therapeut AB, Uppsala, Sweden Univ Newcastle, Dept Dermatol, Newcastle, NSW 2308, Australia Univ Newcastle Newcastle NSW Australia 2308 ewcastle, NSW 2308, Australia Uppsala Univ, Dept Med Biochem & Microbiol, Uppsala, Sweden Uppsala Univ Uppsala Sweden pt Med Biochem & Microbiol, Uppsala, Sweden
Titolo Testata:
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
fascicolo: 2, volume: 260, anno: 1999,
pagine: 488 - 491
SICI:
0006-291X(19990705)260:2<488:LOFMOT>2.0.ZU;2-A
Fonte:
ISI
Lingua:
ENG
Soggetto:
MSH RECEPTOR; RADIOLIGAND BINDING; COAT COLOR; PIGMENTATION; GENETICS; VARIANTS; ALLELES;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
28
Recensione:
Indirizzi per estratti:
Indirizzo: Schioth, HB Uppsala Univ, Dept Pharmaceut Pharmacol, Uppsala, Sweden Uppsala Univ Uppsala Sweden ceut Pharmacol, Uppsala, Sweden
Citazione:
H.B. Schioth et al., "Loss of function mutations of the human melanocortin 1 receptor are commonand are associated with red hair", BIOC BIOP R, 260(2), 1999, pp. 488-491

Abstract

The melanocortin 1 receptor is a G-protein-coupled receptor that acts as acontrol point for control of the eumelanin/phaeomelanin ratio in mouse hair. MC1 receptor loss of function function mutations lead to an increase in the ratio of phaeomelanin/eumelanin in many mammals resulting in yellow or red coat colours. We have previously shown that several common point mutations in the human MC1 receptor are overrepresented in North European redheads and in individuals with pale skin, In order to determine the functional significance of these changes we have carried out transfection and binding studies. Expression of the Val60Leu, Arg142His, Arg151Cys, Arg160Trp, and Asp294His receptors in COS 1 cells revealed that these receptors were unable to stimulate cAMP production as strongly as the wild type receptor in response to alpha-melanocyte-stimulating hormone stimulation, None of the mutantreceptors displayed complete loss of alpha MSH binding, with only the Arg142His and Asp294His displaying a slight reduction in binding affinity. (C) 1999 Academic Press.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 15/07/20 alle ore 08:38:34