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Human Genetics

, Volume 101, Issue 3, pp 371–375 | Cite as

Alternative splicing in PAX2 generates a new reading frame and an extended conserved coding region at the carboxy terminus

  • Kamiab Tavassoli
  • Wolfgang Rüger
  • Jürgen Horst
Original investigation

Abstract

PAX2 is a member of the PAX multigene family encoding transcription factors active in specific tissues during embryogenesis. Several PAX/Pax genes (PAX and Pax describe homologous genes in human and mice, respectively) have been shown to possess critical morphogenetic functions as identified by the analysis of mice targeted for Pax genes and the phenotype of patients heterozygous for PAX mutations. Mutations in PAX2 have been shown to be implicated in independent cases of renal-coloboma syndrome. Here, we report the characterisation of a new PAX2 isoform, viz. PAX2d, which arises because of the use of an alternative acceptor splice site within exon 12 of the PAX2 gene; this leads to a shift in the reading frame. A conserved coding region extended over the regular stop codon may emphasize the biological significance of this isoform.

Keywords

Codon Alternative Splice Splice Site Carboxy Multigene Family 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer-Verlag Berlin Heidelberg 1997

Authors and Affiliations

  • Kamiab Tavassoli
    • 1
  • Wolfgang Rüger
    • 2
  • Jürgen Horst
    • 1
  1. 1.Institut für Humangenetik der Westfälischen Wilhelms-Universität Münster, Vesaliusweg 12–14, D-48 149 Münster, Germany Fax: +49-251-8 355 431DE
  2. 2.Lehrstuhl für Biologie der Mikroorganismen der Ruhr-Universität Bochum, D-44780 Bochum, GermanyDE

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