Article
Massively parallel reporter assays of melanoma risk variants identify MX2 as a gene promoting melanoma.
Nature communications - 1 Jun 2020
Choi Jiyeon, Zhang Tongwu, Vu Andrew, Ablain Julien, Makowski Matthew M, Colli Leandro M, Xu Mai, Hennessey Rebecca C, Yin Jinhu, Rothschild Harriet, Gräwe Cathrin, Kovacs Michael A, Funderburk Karen M, Brossard Myriam, Taylor John, Pasaniuc Bogdan, Chari Raj, Chanock Stephen J, Hoggart Clive J, Demenais Florence, Barrett Jennifer H, Law Matthew H, Iles Mark M, Yu Kai, Vermeulen Michiel, Zon Leonard I, Brown Kevin M
Abstract excerpt
Genome-wide association studies (GWAS) have identified ~20 melanoma susceptibility loci, most of which are not functionally characterized. Here we report an approach integrating massively-parallel reporter assays (MPRA) with cell-type-specific epigenome and expression quantitative trait loci (eQTL) to identify susceptibility genes/variants from multiple GWAS loci. From 832 high-LD variants, we identify 39...
Topics
- Animals
- Cell Line, Tumor
- Disease Models, Animal
- Gene Expression Regulation
- Genes, Reporter
- Genetic Predisposition to Disease
- Genome-Wide Association Study
- HEK293 Cells