Alternative splicing of exons 29 and 30 in the neurofibromatosis type 1 gene.
Hum Genet
; 103(4): 382-5, 1998 Oct.
Article
em En
| MEDLINE
| ID: mdl-9856477
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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Base de dados:
MEDLINE
Assunto principal:
Genes da Neurofibromatose 1
/
Processamento Alternativo
Limite:
Animals
/
Humans
Idioma:
En
Revista:
Hum Genet
Ano de publicação:
1998
Tipo de documento:
Article
País de afiliação:
Estados Unidos