KIT and melanoma predisposition in pigs: sequence variants and association analysis

Area of Science:

• Genetics
• Veterinary Medicine
• Dermatology

Background:

• The KIT gene is implicated in various cancer subtypes, including melanoma, and plays a role in coat color in animals.
• Cutaneous melanoma models are crucial for understanding disease mechanisms and developing treatments.

Purpose of the Study:

• To identify and characterize KIT gene variants in a porcine model of cutaneous melanoma (melanoblastoma-bearing Libechov Minipig - MeLiM).
• To assess the association of identified KIT variants with melanoma-related traits in a crossbred pig population.

Main Methods:

• Sequencing of KIT gene exons and intron borders in MeLiM pigs.
• Identification and genotyping of single nucleotide polymorphisms (SNPs) and insertion/deletion (indel) variants.
• Association analysis of a specific KIT variant (p.Val870Ala) with melanoma development, ulceration, and invasion in MeLiM × Duroc crossbred pigs.

Main Results:

• Thirty-six SNPs and one indel were identified in the KIT gene.
• Three non-synonymous coding SNPs, potentially affecting protein conformation, were found.
• The p.Val870Ala variant in exon 19 showed a significant association with melanoma development, tumor ulceration, and cutaneous invasion.

Conclusions:

• While KIT may not be a primary causal gene for porcine melanoma, its genetic variations can influence melanoma development and progression.
• The identified KIT variant offers a valuable genetic marker for melanoma-related traits in this porcine model.