Complete human NF1 cDNA sequence: two alternatively spliced mRNAs and absence of expression in a neuroblastoma line

DNA Cell Biol. 1992 Dec;11(10):727-34. doi: 10.1089/dna.1992.11.727.


Neurofibromatosis type 1 (NF1) is caused by mutations in a large gene on chromosome 17q11.2. Previously described partial cDNAs for this gene predicted a protein related to yeast IRA1/IRA2 and the mammalian RAS GTPase activator protein GAP. To initiate a detailed study of the role of this gene in NF1, we have characterized a set of overlapping cDNAs that represent its complete coding sequence. Our results show that two differentially expressed human NF1 mRNAs differ by a 63-bp insertion in the GAP-related domain. These mRNAs predict two 2,818- and 2,839-amino acid proteins with calculated molecular masses of approximately 317 and 319 kD. Extensive similarity to IRA proteins is evident in a 1,450-amino-acid central segment, roughly between amino acids 900 and 2,350. However, the remainder of the NF1 protein is not significantly similar to other proteins. Interestingly, the SK-N-SH human neuroblastoma line expresses no detectable NF1 mRNA, indicating that expression of NF1 is not essential for viability of this neural crest-derived tumor cell line.

Publication types

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

MeSH terms

  • Alternative Splicing*
  • Amino Acid Sequence
  • Base Sequence
  • DNA
  • Gene Expression
  • Genes, Neurofibromatosis 1*
  • Humans
  • Molecular Sequence Data
  • Mutation
  • Neuroblastoma / genetics*
  • RNA, Messenger / genetics*
  • Tumor Cells, Cultured


  • RNA, Messenger
  • DNA

Associated data

  • GENBANK/M89914
  • GENBANK/S44927
  • GENBANK/S44929
  • GENBANK/S44930
  • GENBANK/S44931
  • GENBANK/S44934
  • GENBANK/S49657
  • GENBANK/S49659
  • GENBANK/S49660
  • GENBANK/S49663