title: Alternative splicing of exons 29 and 30 in the neurofibromatosis type 1 gene.
abstract: Alternative splicing of exons 29 and 30 of the human neurofibromatosis type 1 (NF1) gene was detected by reverse transcription/polymerase chain reaction (RT-PCR). Three different isoforms that omitted either one or both exons were identified (ex29-, ex30-, and ex29/30-). The alternatively spliced transcripts exhibited tissue-specific differences, with the ex30- variant apparent only in brain. All three isoforms altered the reading frame and introduced a stop codon in the adjacent downstream exon. Alternative splicing of this region of the NF1 gene also was detected in RNA from rats, although only the ex30- variant was observed. RNA from mice revealed only constitutive expression in this region of the NF1 gene. This study adds a new site of alternative processing to the complex expression of NF1.
authors.affiliation: Department of Obstetrics and Gynecology, University of Tennessee, Memphis 38163, USA. vpark@utmem1.utmem.edu
authors.forename: V M
authors.initials: VM
authors.lastname: Park
authors.forename: K A
authors.initials: KA
authors.lastname: Kenwright
authors.forename: D B
authors.initials: DB
authors.lastname: Sturtevant
authors.forename: E K
authors.initials: EK
authors.lastname: Pivnick
mesh_terms: D017398:Alternative Splicing; D000818:Animals; D001921:Brain / Q000378:metabolism; D005091:Exons; D016514:Genes, Neurofibromatosis 1; D006801:Humans; D051379:Mice; D051381:Rats; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014018:Tissue Distribution