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Article

Mapping chromatin interactions at melanoma susceptibility loci uncovers distant cis-regulatory gene targets.

American journal of human genetics - 3 Jul 2025

Thakur Rohit, Xu Mai, Sowards Hayley, Yon Joshuah, Jessop Lea, Myers Timothy, Zhang Tongwu, Chari Raj, Long Erping, Rehling Thomas, Hennessey Rebecca, Funderburk Karen, Yin Jinhu, Machiela Mitchell J, Johnson Matthew E, Wells Andrew D, Chesi Alessandra, Grant Struan F A, Iles Mark M, Landi Maria Teresa, Law Matthew H, Choi Jiyeon, Brown Kevin M

Abstract excerpt

Genome-wide association studies (GWASs) of melanoma risk have identified 68 independent signals at 54 loci. For most loci, specific functional variants and their respective target genes remain to be established. Capture-HiC is an assay that links fine-mapped risk variants to candidate target genes by comprehensively mapping chromatin interactions. We performed a melanoma GWAS region-focused capture-HiC assay in...

Topics

Humans
Melanoma
Chromatin
Genome-Wide Association Study
Quantitative Trait Loci
Genetic Predisposition to Disease
DNA Methylation
Melanocytes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Polymorphism, Single Nucleotide

Gene Expression Regulation, Neoplastic

Chromosome Mapping

Source

Open in PubMed Open full text

Identifiers

PMID: 40409268
DOI: 10.1016/j.ajhg.2025.04.015
PMCID: PMC12256899

Genes

CBL
MDM4
SOX4
SRY

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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