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

Sangalli Antonella | Zendy; Malerba Giovanni | Zendy; Tessari Gianpaolo | Zendy; Rodolfo Monica | Zendy; GomezLira Macarena | Zendy

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

Author(s) -

Sangalli Antonella,

Malerba Giovanni,

Tessari Gianpaolo,

Rodolfo Monica,

GomezLira Macarena

Publication year - 2017

Publication title -

experimental dermatology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.108

H-Index - 96

eISSN - 1600-0625

pISSN - 0906-6705

DOI - 10.1111/exd.13247

Subject(s) - allele , melanoma , gene silencing , biology , gene , dna methylation , epigenetics , cancer research , genome wide association study , cpg site , genetics , single nucleotide polymorphism , methylation , tumor suppressor gene , genotype , gene expression , carcinogenesis

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 SNP s 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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