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.
journal_name
Anim Genetjournal_title
Animal geneticsauthors
Fernández-Rodríguez A,Estellé J,Blin A,Muñoz M,Créchet F,Demenais F,Vincent-Naulleau S,Bourneuf Edoi
10.1111/age.12136subject
Has Abstractpub_date
2014-06-01 00:00:00pages
445-8issue
3eissn
0268-9146issn
1365-2052journal_volume
45pub_type
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