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.
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Received: 27 April 1998 / Accepted: 27 July 1998
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Park, V., Kenwright, K., Sturtevant, D. et al. Alternative splicing of exons 29 and 30 in the neurofibromatosis type 1 gene. Hum Genet 103, 382–385 (1998). https://doi.org/10.1007/s004390050837
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DOI: https://doi.org/10.1007/s004390050837