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

Bernards A, Haase VH, Murthy AE, Menon A, Hannigan GE, Gusella JF
DNA Cell Biol. 1992 11 (10): 727-34

PMID: 1457041 · 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.

MeSH Terms (12)

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

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