The effects of polymorphisms on human gene targeting

Nucleic Acids Res. 2014 Mar;42(5):3119-24. doi: 10.1093/nar/gkt1303. Epub 2013 Dec 25.

Abstract

DNA mismatches that occur between vector homology arms and chromosomal target sequences reduce gene targeting frequencies in several species; however, this has not been reported in human cells. Here we demonstrate that even a single mismatched base pair can significantly decrease human gene targeting frequencies. In addition, we show that homology arm polymorphisms can be used to direct allele-specific targeting or to improve unfavorable vector designs that introduce deletions.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Base Pair Mismatch
  • Cell Line, Tumor
  • Chromosomes / chemistry
  • Gene Targeting*
  • Genetic Loci
  • Genetic Vectors / chemistry
  • Humans
  • Polymorphism, Genetic*
  • Polymorphism, Single Nucleotide