APOBEC3B: pathological consequences of an innate immune DNA mutator

Biomed J. 2015 Mar-Apr;38(2):102-10. doi: 10.4103/2319-4170.148904.

Abstract

Cancer is a disease that results from alterations in the cellular genome. Several recent studies have identified mutational signatures that implicate a variety of mutagenic processes in cancer, a major one of which is explained by the enzymatic activity of the DNA cytosine deaminase, APOBEC3B. As a deaminase, APOBEC3B converts cytosines to uracils in single-stranded DNA. Failure to properly repair these uracil lesions can result in a diverse array of mutations. For instance, DNA uracils can template the insertion of complementary adenines leading to C-to-T transition mutations. DNA uracils can also be converted into abasic sites that, depending upon the DNA polymerase recruited to bypass this lesion in the template strand, can lead to adenine insertion and C-to-T mutations as well as cytosine insertion and C-to-G transversion mutations. Finally, DNA uracils can also be converted into DNA breaks that may precipitate some types of larger chromosomal aberrations observed in cancer. These studies cumulatively demonstrate that APOBEC3B is a major source of genetic heterogeneity in several human cancers and, as such, this enzyme may prove to be a critical diagnostic and therapeutic target.

Publication types

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

MeSH terms

  • Animals
  • Cytidine Deaminase / genetics*
  • Cytidine Deaminase / metabolism
  • DNA*
  • Genetic Predisposition to Disease*
  • Humans
  • Minor Histocompatibility Antigens / genetics*
  • Minor Histocompatibility Antigens / metabolism
  • Mutation / genetics*
  • Neoplasms / genetics*
  • Neoplasms / pathology

Substances

  • Minor Histocompatibility Antigens
  • DNA
  • APOBEC3B protein, human
  • Cytidine Deaminase