title: The neurofibromatosis 1 gene transcripts expressed in peripheral nerve and neurofibromas bear the additional exon located in the GAP domain.
abstract: A second NF1 messenger differing in the GAP domain was recently described. This type II transcript contains an internal additional sequence consisting of an open reading frame, in phase with the preceding and the following sequences and predicts a 21 amino acid addition in the catalytic domain of NF1 protein. In this report we present analysis of the two forms of NF1 transcripts in several normal human tissues and in primary neurofibromatosis tumors. Our results indicate (i) that the type II NF1 messenger displaying the additional exon is very widely expressed in all the normal adult tissues tested, (ii) that it is the form of NF1 messenger expressed in peripheral nerve and neurofibromas, and (iii) that the additional sequence could encode for a peptide related to a nucleoside triphosphatase.
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D002460:Cell Line; D005091:Exons; D020690:GTPase-Activating Proteins; D015870:Gene Expression; D006801:Humans; D008969:Molecular Sequence Data; D009455:Neurofibroma / Q000235:genetics*; D009456:Neurofibromatosis 1 / Q000235:genetics*; D025542:Neurofibromin 1; D009838:Oligodeoxyribonucleotides; D016366:Open Reading Frames; D010525:Peripheral Nerves / Q000503:physiopathology*; D016133:Polymerase Chain Reaction / Q000379:methods; D011506:Proteins / Q000235:genetics*; D012313:RNA / Q000235:genetics / Q000302:isolation & purification; D012334:RNA, Neoplasm / Q000235:genetics / Q000302:isolation & purification; D017386:Sequence Homology, Amino Acid; D014158:Transcription, Genetic
chemical_list: D020690:GTPase-Activating Proteins; D025542:Neurofibromin 1; D009838:Oligodeoxyribonucleotides; D011506:Proteins; D012334:RNA, Neoplasm; D012313:RNA