Logo image
Transposon mutagenesis identifies genetic drivers of Braf(V600E) melanoma
Journal article   Peer reviewed

Transposon mutagenesis identifies genetic drivers of Braf(V600E) melanoma

Michael B Mann, Michael A Black, Devin J Jones, Jerrold M Ward, Christopher Chin Kuan Yew, Justin Y Newberg, Adam J Dupuy, Alistair G Rust, Marcus W Bosenberg, Martin McMahon, …
Nature genetics, Vol.47(5), pp.486-U86
05/2015
DOI: 10.1038/ng.3275
PMCID: PMC4844184
PMID: 25848750

View Online

Abstract

Although nearly half of human melanomas harbor oncogenic BRAF(V600E) mutations, the genetic events that cooperate with these mutations to drive melanogenesis are still largely unknown. Here we show that Sleeping Beauty (SB) transposon-mediated mutagenesis drives melanoma progression in Braf(V600E) mutant mice and identify 1,232 recurrently mutated candidate cancer genes (CCGs) from 70 SB-driven melanomas. CCGs are enriched in Wnt, PI3K, MAPK and netrin signaling pathway components and are more highly connected to one another than predicted by chance, indicating that SB targets cooperative genetic networks in melanoma. Human orthologs of >500 CCGs are enriched for mutations in human melanoma or showed statistically significant clinical associations between RNA abundance and survival of patients with metastatic melanoma. We also functionally validate CEP350 as a new tumor-suppressor gene in human melanoma. SB mutagenesis has thus helped to catalog the cooperative molecular mechanisms driving BRAF(V600E) melanoma and discover new genes with potential clinical importance in human melanoma.
Mutagenesis Neoplasm Transplantation Humans Male Mice, 129 Strain Mutation, Missense Gene Regulatory Networks Exome Melanoma - genetics DNA Transposable Elements - genetics Female Microtubule Proteins - genetics Nuclear Proteins - genetics Genes, Tumor Suppressor Skin Neoplasms - pathology Genetic Predisposition to Disease Genetic Association Studies Gene Frequency Mice, Inbred C57BL Mice, Transgenic Mice, SCID Melanoma - secondary Mice, Inbred C3H Animals Proto-Oncogene Proteins B-raf - genetics Skin Neoplasms - genetics Cell Line, Tumor Mice, Inbred NOD

Details

Metrics

Logo image