A germline DNA polymorphism enhances alternative splicing of the KLF6 tumor suppressor gene and is associated with increased prostate cancer risk

Cancer Res. 2005 Feb 15;65(4):1213-22. doi: 10.1158/0008-5472.CAN-04-4249.

Abstract

Prostate cancer is a leading and increasingly prevalent cause of cancer death in men. Whereas family history of disease is one of the strongest prostate cancer risk factors and suggests a hereditary component, the predisposing genetic factors remain unknown. We first showed that KLF6 is a tumor suppressor somatically inactivated in prostate cancer and since then, its functional loss has been further established in prostate cancer cell lines and other human cancers. Wild-type KLF6, but not patient-derived mutants, suppresses cell growth through p53-independent transactivation of p21. Here we show that a germline KLF6 single nucleotide polymorphism, confirmed in a tri-institutional study of 3,411 men, is significantly associated with an increased relative risk of prostate cancer in men, regardless of family history of disease. This prostate cancer-associated allele generates a novel functional SRp40 DNA binding site and increases transcription of three alternatively spliced KLF6 isoforms. The KLF6 variant proteins KLF6-SV1 and KLF6-SV2 are mislocalized to the cytoplasm, antagonize wtKLF6 function, leading to decreased p21 expression and increased cell growth, and are up-regulated in tumor versus normal prostatic tissue. Thus, these results are the first to identify a novel mechanism of self-encoded tumor suppressor gene inactivation and link a relatively common single nucleotide polymorphism to both regulation of alternative splicing and an increased risk in a major human cancer.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Alleles
  • Alternative Splicing
  • Binding Sites
  • Cell Cycle Proteins / antagonists & inhibitors
  • Cell Growth Processes / genetics
  • Cyclin-Dependent Kinase Inhibitor p21
  • Genes, Tumor Suppressor
  • Germ-Line Mutation*
  • Humans
  • Kruppel-Like Factor 6
  • Kruppel-Like Transcription Factors
  • Male
  • Middle Aged
  • Nuclear Proteins / metabolism
  • Phosphoproteins / metabolism
  • Polymorphism, Single Nucleotide*
  • Prostatic Neoplasms / genetics*
  • Protein Isoforms
  • Proto-Oncogene Proteins / antagonists & inhibitors
  • Proto-Oncogene Proteins / biosynthesis
  • Proto-Oncogene Proteins / genetics*
  • RNA-Binding Proteins
  • Serine-Arginine Splicing Factors
  • Trans-Activators / antagonists & inhibitors
  • Trans-Activators / biosynthesis
  • Trans-Activators / genetics*
  • Transfection

Substances

  • CDKN1A protein, human
  • Cell Cycle Proteins
  • Cyclin-Dependent Kinase Inhibitor p21
  • KLF6 protein, human
  • Kruppel-Like Factor 6
  • Kruppel-Like Transcription Factors
  • Nuclear Proteins
  • Phosphoproteins
  • Protein Isoforms
  • Proto-Oncogene Proteins
  • RNA-Binding Proteins
  • Trans-Activators
  • Serine-Arginine Splicing Factors