Detalle de: KITand melanoma predisposition in pigs: sequence variants and association analysis

Summary KIT mutations have been detected in different cancer subtypes, including melanoma. The gene also has been extensively studied in farm animals for its prominent role in coat color. The present work aimed at detecting KIT variants in a porcine model of cutaneous melanoma, the melanoblastoma‐bearing L ibechov M inipig ( M e L i M ). By sequencing exons and intron borders, 36 SNP s and one indel were identified. Of 10 coding SNP s, three were non‐synonymous mutations, likely to affect the protein conformation. A promising variant, located in exon 19 (p. V al870 A la), was genotyped in a M e L i M × D uroc cross, and an association analysis was conducted on several melanoma‐related traits. This variant showed a significant association with melanoma development, tumor ulceration and cutaneous invasion. In conclusion, although the KIT gene would not be a major causal gene for melanoma development in pig, its genetic variation could be influencing this trait.