Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2011 Oct;22(9-10):602-12.
doi: 10.1007/s00335-011-9334-6. Epub 2011 May 28.

Genetic and Functional Evaluation of MITF as a Candidate Gene for Cutaneous Melanoma Predisposition in Pigs

Affiliations

Genetic and Functional Evaluation of MITF as a Candidate Gene for Cutaneous Melanoma Predisposition in Pigs

Emmanuelle Bourneuf et al. Mamm Genome. .

Abstract

Cutaneous melanoma arises from transformed melanocytes and is caused mainly by environmental effects such as ultraviolet radiation and to a lesser extent by predisposing genetic variants. Only a few susceptibility genes for cutaneous melanoma have been identified so far in human; therefore, animal models represent a valuable alternative for genetic studies of this disease. In a previous quantitative trait locus (QTL) study, several susceptibility regions were identified in a swine biomedical model, the MeLiM (Melanoblastoma-bearing Libechov minipig) pigs. This article details the fine-mapping of a QTL located on SSC13 (Sus scrofa chromosome 13) through an increase in marker density. New microsatellites were used to confirm the results of the first analysis, and MITF (microphthalmia-associated transcription factor) was selected as a candidate gene for melanoma development. A single-marker association analysis was performed with single-nucleotide polymorphisms (SNPs) spread over the locus, but it did not reveal a significant association with diverse melanoma-related traits. In parallel, MITF alternative transcripts were characterized and their expression was investigated in different porcine tissues. The obtained results showed a complex transcriptional regulation concordant with the one present in other mammals. Notably, the ratio between MITF+ and MITF- isoforms in melanoma samples followed the same pattern as in human tumors, which highlights the adequacy of the MeLiM pig as a model for human melanoma. In conclusion, although MITF does not seem to be the causal gene of the QTL initially observed, we do not exclude a prominent role of its transcription and function in the outbreak and evolution of the tumors observed in pigs.

Similar articles

See all similar articles

Cited by 3 articles

References

    1. Biochim Biophys Acta. 2002 Feb 20;1574(1):15-23 - PubMed
    1. Pigment Cell Melanoma Res. 2010 Feb;23(1):93-102 - PubMed
    1. Gene. 2005 Feb 28;347(1):73-82 - PubMed
    1. Vet J. 2009 Nov;182(2):283-93 - PubMed
    1. J Biol Chem. 2005 Jan 7;280(1):146-55 - PubMed

Publication types

Substances

Associated data

LinkOut - more resources

Feedback