Melanoma risk alleles are associated with downregulation of the MTAP gene and hypermethylation of a CpG island upstream of the gene in dermal fibroblasts

Antonella Sangalli, Giovanni Malerba, Gianpaolo Tessari, Monica Rodolfo, Macarena Gomez-Lira

Research output: Contribution to journalArticle

Abstract

Several association studies and GWAS on melanoma skin cancer risk have reported statistically significant signals on 9p21.3 region, where MTAP gene maps. None of the associated SNPs identified in these studies lie in the coding region of the gene and the causative relation of risk alleles with melanoma predisposition has not been elucidated. MTAP has a tumor suppressor activity and epigenetic silencing has been described in melanoma cell lines. In the present study, we show that melanoma risk alleles correlate with a MTAP allele-specific hyper-methylation and down-regulation of gene expression.

Original languageEnglish
JournalExperimental Dermatology
DOIs
Publication statusE-pub ahead of print - Oct 20 2016

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CpG Islands
Fibroblasts
Melanoma
Down-Regulation
Genes
Alleles
Skin
Methylation
Gene expression
Tumors
Genome-Wide Association Study
Gene Expression Regulation
Skin Neoplasms
Cells
Epigenomics
Association reactions
Single Nucleotide Polymorphism
Cell Line
Neoplasms

Keywords

  • Letter

Cite this

Melanoma risk alleles are associated with downregulation of the MTAP gene and hypermethylation of a CpG island upstream of the gene in dermal fibroblasts. / Sangalli, Antonella; Malerba, Giovanni; Tessari, Gianpaolo; Rodolfo, Monica; Gomez-Lira, Macarena.

In: Experimental Dermatology, 20.10.2016.

Research output: Contribution to journalArticle

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AU - Rodolfo, Monica

AU - Gomez-Lira, Macarena

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N2 - Several association studies and GWAS on melanoma skin cancer risk have reported statistically significant signals on 9p21.3 region, where MTAP gene maps. None of the associated SNPs identified in these studies lie in the coding region of the gene and the causative relation of risk alleles with melanoma predisposition has not been elucidated. MTAP has a tumor suppressor activity and epigenetic silencing has been described in melanoma cell lines. In the present study, we show that melanoma risk alleles correlate with a MTAP allele-specific hyper-methylation and down-regulation of gene expression.

AB - Several association studies and GWAS on melanoma skin cancer risk have reported statistically significant signals on 9p21.3 region, where MTAP gene maps. None of the associated SNPs identified in these studies lie in the coding region of the gene and the causative relation of risk alleles with melanoma predisposition has not been elucidated. MTAP has a tumor suppressor activity and epigenetic silencing has been described in melanoma cell lines. In the present study, we show that melanoma risk alleles correlate with a MTAP allele-specific hyper-methylation and down-regulation of gene expression.

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