Long-range disruption of gene expression by a selectable marker cassette

Proc Natl Acad Sci U S A. 1996 Nov 12;93(23):13090-5. doi: 10.1073/pnas.93.23.13090.

Abstract

Recent studies have suggested that the retention of selectable marker cassettes (like PGK-Neo, in which a hybrid gene consisting of the phosphoglycerate kinase I promoter drives the neomycin phosphotransferase gene) in targeted loci can cause unexpected phenotypes in "knockout" mice due to disruption of expression of neighboring genes within a locus. We have studied targeted mutations in two multigene clusters, the granzyme B locus and the beta-like globin gene cluster. The insertion of PGK-Neo into the granzyme B gene, the most 5' gene in the granzyme B gene cluster, severely reduced the normal expression of multiple genes within the locus, even at distances greater than 100 kb from the mutation. Similarly, the insertion of a PGK-Neo cassette into the beta-globin locus control region (LCR) abrogates the expression of multiple globin genes downstream from the cassette. In contrast, a targeted mutation of the promyelocyte-specific cathepsin G gene (which lies just 3' to the granzyme genes in the same cluster) had minimal effects on upstream granzyme gene expression. Although the mechanism of these-long distance effects are unknown, the expression of PGK-Neo can be "captured" by the regulatory domain into which it is inserted. These results suggest that the PGK-Neo cassette can interact productively with locus control regions and thereby disrupt normal interactions between local and long-distance regulatory regions within a tissue-specific domain.

Publication types

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

MeSH terms

  • Animals
  • Cathepsin G
  • Cathepsins / genetics
  • DNA Transposable Elements*
  • Gene Expression*
  • Gene Library
  • Genetic Markers*
  • Globins / genetics*
  • Granzymes
  • Kanamycin Kinase
  • Mice
  • Mice, Knockout
  • Molecular Sequence Data
  • Multigene Family*
  • Mutagenesis, Insertional
  • Phosphoglycerate Kinase / biosynthesis
  • Phosphoglycerate Kinase / genetics
  • Phosphotransferases (Alcohol Group Acceptor) / biosynthesis
  • Polymerase Chain Reaction
  • Promoter Regions, Genetic
  • Regulatory Sequences, Nucleic Acid
  • Serine Endopeptidases / genetics*

Substances

  • DNA Transposable Elements
  • Genetic Markers
  • Globins
  • Phosphotransferases (Alcohol Group Acceptor)
  • Kanamycin Kinase
  • Phosphoglycerate Kinase
  • Cathepsins
  • Granzymes
  • Gzmb protein, mouse
  • Serine Endopeptidases
  • Cathepsin G
  • Ctsg protein, mouse