Somatic mutations in MAP3K5 attenuate its proapoptotic function in melanoma through increased binding to thioredoxin

J Invest Dermatol. 2014 Feb;134(2):452-460. doi: 10.1038/jid.2013.365. Epub 2013 Sep 5.

Abstract

Patients with advanced metastatic melanoma have poor prognosis and the genetics underlying its pathogenesis are poorly understood. High-throughput sequencing has allowed comprehensive discovery of somatic mutations in cancer samples. Here, on analysis of our whole-genome and whole-exome sequencing data of 29 melanoma samples, we identified several genes that harbor recurrent nonsynonymous mutations. These included MAP3K5 (mitogen-activated protein kinase kinase kinase-5), which in a prevalence screen of 288 melanomas was found to harbor a R256C substitution in 5 cases. All MAP3K5-mutated samples were wild type for BRAF, suggesting a mutual exclusivity for these mutations. Functional analysis of the MAP3K5 R256C mutation revealed attenuation of MKK4 (mitogen-activated protein kinase kinase 4) activation through increased binding of the inhibitory protein thioredoxin (TXN/TRX-1/Trx), resulting in increased proliferation and anchorage-independent growth of melanoma cells. This mutation represents a potential target for the design of new therapies to treat melanoma.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, N.I.H., Intramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Apoptosis / physiology
  • Cell Proliferation
  • HEK293 Cells
  • Humans
  • MAP Kinase Kinase 4 / metabolism
  • MAP Kinase Kinase Kinase 5 / genetics*
  • MAP Kinase Kinase Kinase 5 / metabolism
  • Melanoma / genetics*
  • Melanoma / metabolism
  • Melanoma / pathology*
  • Models, Genetic
  • Point Mutation
  • Protein Binding
  • RNA, Small Interfering / genetics
  • Signal Transduction / physiology
  • Skin Neoplasms / genetics*
  • Skin Neoplasms / metabolism
  • Skin Neoplasms / pathology*
  • Thioredoxins / metabolism*
  • Tumor Cells, Cultured

Substances

  • RNA, Small Interfering
  • Thioredoxins
  • MAP Kinase Kinase Kinase 5
  • MAP3K5 protein, human
  • MAP Kinase Kinase 4
  • MAP2K4 protein, human