Abstract:
: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.
journal_name
Hum Mol Genetjournal_title
Human molecular geneticsauthors
Verkerk AJ,de Graaff E,De Boulle K,Eichler EE,Konecki DS,Reyniers E,Manca A,Poustka A,Willems PJ,Nelson DLdoi
10.1093/hmg/2.4.399subject
Has Abstract,Author List Incompletepub_date
1993-04-01 00:00:00pages
399-404issue
4eissn
0964-6906issn
1460-2083journal_volume
2pub_type
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