Identification of c.483C>T polymorphism in the caprine tyrosinase-related protein 1 (TYRP1) gene

• Published in: Italian journal of animal science 2012-03, Vol.11 (1), p.e12
• Main Authors: Bouabid Badaoui, Arianna Manunza, Mariasilvia D'Andrea, Fabio Pilla, Juan Capote, Jordi Jordana, Ainhoa Ferrando, Amparo Martínez, Juan V. Delgado, Vincenzo Landi, Mariano Gómez, Agueda L. Pons Barro, Mabrouk El Ouni, Oriol Vidal, Marcel Amills
• Format: Article
• Language: English
• Subjects: Coat colour; Goat; Tyrosinase-related protein 1
• ISSN: 1594-4077; 1828-051X

Tyrosinase-related protein 1 (TYRP1) has been shown to play a fundamental role in pigmentation both in human and mouse. In this work, we aimed to characterize the variability of the caprine TYRP1 gene and investigate its segregation in a wide array of goat breeds. By partially sequencing the coding region of the TYRP1 gene in 18 individuals from eight different breeds, we were able to identify a synonymous nucleotide substitution at exon 3 (c.483C>T). An extensive survey of Iberian and Balearic (N=175), Italian (N=99), Swiss (N=54), Asian (N=14), Canarian (N=92) and North African (N=117) goats with different coat colours was carried out. We found that the C-allele has a different distribution in European vs African breeds, being almost fixed in the latter. Moreover, the C-allele showed an increased frequency in white coated breeds (Girgentana, Grigia Molisana, Blanca de Rasquera and Saanen) when compared with those displaying a dark pigmentation (Cilentana Nera, Azpi Gorri and Murciano- Granadina). This could be due to genetic drift, migration and other factors associated with the demographic history of breeds under analysis or to a genetic hitchhiking event (c.483C>T frequencies would be shaped by a neighbouring causal mutation differentially selected in white and black goats). More refined studies will be needed to distinguish between these two alternative explanations.