KIT and melanoma predisposition in pigs: sequence variants and association analysis.
Anim Genet
; 45(3): 445-8, 2014 Jun.
Article
in En
| MEDLINE
| ID: mdl-24628300
ABSTRACT
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 Libechov Minipig (MeLiM). By sequencing exons and intron borders, 36 SNPs and one indel were identified. Of 10 coding SNPs, three were non-synonymous mutations, likely to affect the protein conformation. A promising variant, located in exon 19 (p.Val870Ala), was genotyped in a MeLiM × Duroc 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.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Skin Neoplasms
/
Swine
/
Proto-Oncogene Proteins c-kit
/
Polymorphism, Single Nucleotide
/
Melanoma
Type of study:
Prognostic_studies
/
Risk_factors_studies
Limits:
Animals
Language:
En
Journal:
Anim Genet
Journal subject:
GENETICA
/
MEDICINA VETERINARIA
Year:
2014
Document type:
Article
Affiliation country:
Spain