Alternative splicing of exons 29 and 30 in the neurofibromatosis type 1 gene

Vicki Murtif Park, Kathleen Kenwright, Dawn B. Sturtevant, Enikö Kármán Pivnick

Research output: Contribution to journalArticle

22 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)382-385
Number of pages4
JournalHuman genetics
Volume103
Issue number4
DOIs
StatePublished - Dec 9 1998

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Neurofibromatosis 1 Genes
Neurofibromatosis 1
Alternative Splicing
Exons
Protein Isoforms
RNA
Reading Frames
Terminator Codon
Reverse Transcription
Polymerase Chain Reaction
Brain

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

Alternative splicing of exons 29 and 30 in the neurofibromatosis type 1 gene. / Park, Vicki Murtif; Kenwright, Kathleen; Sturtevant, Dawn B.; Pivnick, Enikö Kármán.

In: Human genetics, Vol. 103, No. 4, 09.12.1998, p. 382-385.

Research output: Contribution to journalArticle

Park, Vicki Murtif ; Kenwright, Kathleen ; Sturtevant, Dawn B. ; Pivnick, Enikö Kármán. / Alternative splicing of exons 29 and 30 in the neurofibromatosis type 1 gene. In: Human genetics. 1998 ; Vol. 103, No. 4. pp. 382-385.
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