Alternative polyadenylation signals and promoters act in concert to control tissue-specific expression of the Opitz syndrome gene MID1

Jennifer Winter, Melanie Kunath, Stefan Roepcke, Sven Krause, Rainer Schneider, Susann Schweiger

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    19 Citations (Scopus)

    Abstract

    Background: Mutations in the X-linked MID1 gene are responsible for Opitz G/BBB syndrome, a malformation disorder of developing midline structures. Previous Northern blot analyses revealed the existence of at least three MID1 transcripts of differing lengths.

    Results: Here we show that alternative polyadenylation generates the size differences observed in the Northern blot analyses. Analysis of EST data together with additional Northern blot analyses proved tissue-specific usage of the alternative polyadenylation sites. Bioinformatic characterization of the different 3'UTRs of MID1 revealed numerous RNA-protein interaction motifs, several of which turned out to be conserved between different species. Furthermore, our data suggest that mRNA termination at different polyadenylation sites is predetermined by the choice of alternative 5'UTRs and promoters of the MID1 gene, a mechanism that efficiently allows synergistic function of 5' and 3'UTRs.

    Conclusion: MID1 expression is tightly regulated through concerted action of alternative promoters and alternative polyadenylation signals both during embryonic development and in the adult.

    Original languageEnglish
    Article number105
    Pages (from-to)-
    Number of pages12
    JournalBMC Molecular Biology
    Volume8
    DOIs
    Publication statusPublished - 15 Nov 2007

    Keywords

    • MESSENGER-RNA STABILITY
    • TRANSLATIONAL CONTROL
    • G/BBB SYNDROME
    • END FORMATION
    • IDENTIFICATION
    • MUTATIONS
    • EVOLUTION
    • COMPLEX
    • HUR

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