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Titolo:
Melanocortin 1 receptor variation in the domestic dog
Autore:
Newton, JM; Wilkie, AL; He, L; Jordan, SA; Metallinos, DL; Holmes, NG; Jackson, IJ; Barsh, GS;
Indirizzi:
Stanford Univ, Sch Med, Beckman Ctr, Dept Pediat, Stanford, CA 94305 USA Stanford Univ Stanford CA USA 94305 , Dept Pediat, Stanford, CA 94305 USA Stanford Univ, Sch Med, Beckman Ctr, Dept Genet, Stanford, CA 94305 USA Stanford Univ Stanford CA USA 94305 r, Dept Genet, Stanford, CA 94305 USA Stanford Univ, Sch Med, Beckman Ctr, Howard Hughes Med Inst, Stanford, CA 94305 USA Stanford Univ Stanford CA USA 94305 ghes Med Inst, Stanford, CA 94305 USA
Titolo Testata:
MAMMALIAN GENOME
fascicolo: 1, volume: 11, anno: 2000,
pagine: 24 - 30
SICI:
0938-8990(200001)11:1<24:M1RVIT>2.0.ZU;2-F
Fonte:
ISI
Lingua:
ENG
Soggetto:
STIMULATING-HORMONE-RECEPTOR; MOUSE AGOUTI GENE; COAT COLOR; CYTOPLASMIC TAIL; RED HAIR; PROTEIN; PALMITOYLATION; PIGMENTATION; EXPRESSION; MUTATIONS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
48
Recensione:
Indirizzi per estratti:
Indirizzo: Barsh, GS Univ Arizona, Dept Pediat, Tucson, AZ 85724 USA Univ Arizona Tucson AZ USA 85724 t Pediat, Tucson, AZ 85724 USA
Citazione:
J.M. Newton et al., "Melanocortin 1 receptor variation in the domestic dog", MAMM GENOME, 11(1), 2000, pp. 24-30

Abstract

The melanocortin 1 receptor(Mc1r) is encoded by the Extension locus in many different mammals, where a loss-of function causes exclusive production of red/yellow pheomelanin, and a constitutively activating mutation causes exclusive production of black/brown eumelanin. In the domestic dog, breeds with a wild-type E allele, e.g., the Doberman, can produce either pigment type, whereas breeds with the e allele, e.g., the Golden Retriever, produce exclusively yellow pigment. However, a black coat color in the Newfoundland and similar breeds is thought to be caused by an unusual allele of Agouti, which encodes the physiologic ligand for the Mc1r. Here we report that the predicted dog Mc1r is 317 residues in length and 96% identical to the fox Mc1r. Comparison of the Doberman, Newfoundland, Black Labrador, Yellow Labrador, Flat-coated Retriever, Irish Setter, and Golden Retriever revealed sixsequence variants, of which two, S90G and R306ter, partially correlated with a black/brown coal and red/yellow coat, respectively. R306ter was found in the Yellow Labrador, Golden Retriever, and Irish Setter; the latter two had identical haplotypes but differed from the Yellow Labrador at three positions other than R306ter. In a larger survey of 194 dogs and 19 breeds, R306ter and a red/yellow coat were completely concordant except for the Red Chow. These results indicate that the e allele is caused by a common Mc1r loss-of-function mutation that either reoccurred or was subject to gene conversion during recent evolutionary history, and suggest that the allelic and locus relationships for dog coat color genes may be more analogous to thosefound in other mammals than previously thought.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 16/07/20 alle ore 16:43:08