Alternative splicing in the fragile X gene FMR1

• Published in: Human molecular genetics 1993-04, Vol.2 (4), p.399-404
• Main Authors: Verkerk, Annemieke J.M.H., de Graaff, Esther, De Boulle, Kristel, Eichler, Evan E., Konecki, David S., Reyniers, Edwin, Manca, Antonella, Poustka, Annemarie, Willems, Patrick J., Nelson, David L., Oostra, Ben A.
• Format: Article
• Language: English
• Subjects: Alternative Splicing - genetics; Amino Acid Sequence; Base Sequence; Biological and medical sciences; cDNA; Chromosome fragility (bloom syndrome, ataxia telangiectasia, fanconi anemia, x-linked mental retardation...); DNA - genetics; DNA Mutational Analysis; Exons; FMR1 gene; fragile sites; Fragile X Syndrome - genetics; genes; Humans; Introns; Male; man; Medical genetics; Medical sciences; Molecular Sequence Data; nucleotide sequence; Polymerase Chain Reaction; RNA, Messenger - genetics; splicing; Transcription, Genetic
• ISSN: 0964-6906; 1460-2083
• DOI: 10.1093/hmg/2.4.399

The FMR1 gene, associated with fragile X syndrome, has recently been cloned and the sequence of partial cDNA clones is known. We have determined additional cDNA sequences both at the 5' and 3' end. We have characterized the expressed gene by means of RT-PCR in various tissues and have found that alternative splicing takes place in the FMR1 gene, which does not seem to be tissue specific. When the different alternative splicing events are combined, 12 distinct mRNA products could result from FMR1 expression in each tested tissue. In all these transcripts the open reading frame is maintained until the same stop codon. At the 3' end alternative use of polyadenylation signals is found. The alternative splicing allows functional diversity of the FMR-1 gene. Whether all the possible proteins will be synthesized and whether they will be functionally active has to be determined.