title: Alternative polyadenylation signals and promoters act in concert to control tissue-specific expression of the Opitz Syndrome gene MID1.
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.
  
  
  CONCLUSIONS
  MID1 expression is tightly regulated through concerted action of alternative promoters and alternative polyadenylation signals both during embryonic development and in the adult.
authors.affiliation: Max-Planck Institute for Molecular Genetics, Berlin-Dahlem, Germany. winter@molgen.mpg.de
authors.forename: Jennifer
authors.initials: J
authors.lastname: Winter
authors.forename: Melanie
authors.initials: M
authors.lastname: Kunath
authors.forename: Stefan
authors.initials: S
authors.lastname: Roepcke
authors.forename: Sven
authors.initials: S
authors.lastname: Krause
authors.forename: Rainer
authors.initials: R
authors.lastname: Schneider
authors.forename: Susann
authors.initials: S
authors.lastname: Schweiger
mesh_terms: D020413:3' Untranslated Regions / Q000235:genetics; D020121:5' Untranslated Regions / Q000235:genetics; D000818:Animals; D001483:Base Sequence; D015152:Blotting, Northern; D017124:Conserved Sequence; D020224:Expressed Sequence Tags; D005786:Gene Expression Regulation; D006367:HeLa Cells; D006801:Humans; D008868:Microtubule Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D009687:Nuclear Proteins / Q000235:genetics*; D009928:Organ Specificity; D026723:Polyadenylation / Q000235:genetics*; D011401:Promoter Regions, Genetic / Q000235:genetics*; D011485:Protein Binding; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D051381:Rats; D019082:Smith-Lemli-Opitz Syndrome / Q000235:genetics*; D013045:Species Specificity; D014157:Transcription Factors / Q000235:genetics*; D044767:Ubiquitin-Protein Ligases
chemical_list: D020413:3' Untranslated Regions; D020121:5' Untranslated Regions; D008868:Microtubule Proteins; D009687:Nuclear Proteins; D012333:RNA, Messenger; D014157:Transcription Factors; C109052:MID1 protein, human; D044767:Ubiquitin-Protein Ligases