Quantification of NF1 transcripts reveals novel highly expressed splice variants

FEBS Lett. 2002 Jul 3;522(1-3):71-6. doi: 10.1016/s0014-5793(02)02887-9.


Previously, we have shown that the NF1 gene gives rise to multiple novel splice variants. In the present study, nine NF1 variants were quantified by real-time PCR in various human tissues. Some of these variants were expressed at low to moderate low levels and possible implications of these findings are discussed. Interestingly, two variants (NF1-DeltaE4b and NF1-DeltaE43) were shown to be highly expressed in specific tissues. NF1-DeltaE43 lacks a nuclear targeting sequence and might be functionally different from full-length NF1. These novel NF1 splice variants might expand our understanding of the role of neurofibromin.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alternative Splicing*
  • Animals
  • Cells, Cultured
  • Gene Expression*
  • Genes, Neurofibromatosis 1 / physiology
  • Humans
  • Lymphocytes / cytology
  • Lymphocytes / metabolism
  • Mice
  • Neurofibromatosis 1 / genetics*
  • Neurofibromin 1 / genetics*
  • RNA, Messenger*
  • Tissue Distribution


  • Neurofibromin 1
  • RNA, Messenger