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Titolo:
Molecular and pharmacological characterization of dominant black coat color in sheep
Autore:
Vage, DI; Klungland, H; Lu, D; Cone, RD;
Indirizzi:
Agr Univ Norway, Dept Anim Sci, N-1432 As Nlh, Norway Agr Univ Norway As Nlh Norway N-1432 ept Anim Sci, N-1432 As Nlh, Norway Oregon Hlth Sci Univ, Vollum Inst, Portland, OR 97201 USA Oregon Hlth Sci Univ Portland OR USA 97201 m Inst, Portland, OR 97201 USA
Titolo Testata:
MAMMALIAN GENOME
fascicolo: 1, volume: 10, anno: 1999,
pagine: 39 - 43
SICI:
0938-8990(199901)10:1<39:MAPCOD>2.0.ZU;2-5
Fonte:
ISI
Lingua:
ENG
Soggetto:
STIMULATING-HORMONE-RECEPTOR; MSH RECEPTOR; MELANOCORTIN RECEPTORS; AGOUTI; CLONING; PIGMENTATION; EXTENSION; MUTATION; PROTEIN; LOCUS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
19
Recensione:
Indirizzi per estratti:
Indirizzo: Vage, DI Agr Univ Norway, Dept Anim Sci, POB 5025, N-1432 As Nlh, Norway Agr Univ Norway POB 5025 As Nlh Norway N-1432 432 As Nlh, Norway
Citazione:
D.I. Vage et al., "Molecular and pharmacological characterization of dominant black coat color in sheep", MAMM GENOME, 10(1), 1999, pp. 39-43

Abstract

Dominant black coat color in sheep is predicted to be caused by an allele E-D at the extension locus. Recent studies have shown that this gene encodes the melanocyte stimulating hormone receptor (MC1-R). In mouse and fox, naturally occurring mutations in the coding region of MC1-R produce a constitutively activated receptor that switches the synthesis from phaeomelanin toeumelanin within the melanocyte, explaining the black coat color observed phenotypically. In the sheep, we have identified a Met-->Lys mutation in position 73 (M73K) together with a Asp --> Asn change at position 121 (D121N)showing complete cosegregation with dominant black coat color in a family lineage. Only the M73K mutation showed constitutive activation when introduced into the corresponding mouse receptor (mMC1-R) for pharmacological analysis, however, the position corresponding to D121 in the mouse receptor is required for high affinity ligand binding. The pharmacological profile of the M73K change is unique compared to the constitutively active E92K mutation in the sombre mouse and C123R mutation in the Alaska silver fox, indicating that the M73K change activates the receptor via a mechanism distinct from these previously characterized mutations.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 19/09/20 alle ore 21:21:44