Signed outside: a surface marker system for transgenic cytoplasmic proteins

Gene Ther. 2010 Oct;17(10):1193-9. doi: 10.1038/gt.2010.73. Epub 2010 May 6.

Abstract

Chronic granulomatous disease is a primary immunodeficiency, comprising five molecular defects, characterized by an impaired respiratory burst activity of myeloid cells. We are currently developing a gene therapy vector for the p47phox-deficient form of chronic granulomatous disease. Classic intracellular immunostaining of the cytoplasmic p47phox transgene product, however, interferes with respiratory burst activity. In this study we report a new system for measuring p47phox expression: A single open reading frame encoding the surface marker protein ΔLNGFR (truncated low-affinity nerve growth factor receptor) linked to the p47phox transgene by the 2A oligopeptide coexpression technology. Translation generates two discrete products: p47phox localizing to the cytoplasm and 'ΔLNGFR-2A' localizing to the cell surface. Six weeks after transplantation of transduced autologous hematopoietic stem cells into p47-/- mice, the intracellular p47phox fluorescence-activated cell sorting (FACS) signal intensities corresponded to surface ΔLNGFR staining in monocytes, B cells, T cells and Sca I+ bone marrow cells in vivo. The p47phox cleavage product restored nicotinamide adenine dinucleotide phosphate-oxidase activity in granulocytes differentiated from transduced p47phox-/- murine hematopoietic stem cells ex vivo, in murine granulocytes/monocytes in vivo, and in transduced human monocyte derived macrophages from p47phox-deficient chronic granulomatous disease patients. In conclusion, this new marker system allows highly efficient, indirect detection of cytoplasmic transgene products by FACS surface staining.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Biomarkers / chemistry
  • Flow Cytometry
  • Genetic Therapy
  • Genetic Vectors / genetics
  • Granulomatous Disease, Chronic / genetics
  • Granulomatous Disease, Chronic / metabolism
  • Granulomatous Disease, Chronic / therapy*
  • Hematopoietic Stem Cells / cytology
  • Hematopoietic Stem Cells / metabolism
  • Humans
  • Mice
  • NADPH Oxidases / genetics*
  • NADPH Oxidases / metabolism
  • Receptors, Nerve Growth Factor / genetics*
  • Transgenes / genetics*

Substances

  • Biomarkers
  • Receptors, Nerve Growth Factor
  • NADPH Oxidases
  • neutrophil cytosolic factor 1