Alternative splicing in PAX2 generates a new reading frame and an extended conserved coding region at the carboxy terminus.
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.
Tavassoli
K
K
Institut für Humangenetik, Westfälischen Wilhelms-Universität Münster, Germany.
Rüger
W
W
Horst
J
J
D017398:Alternative Splicing; D000595:Amino Acid Sequence; D001483:Base Sequence; D017124:Conserved Sequence; D018076:DNA, Complementary / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics*; D016368:Frameshift Mutation; D015723:Gene Library; D006801:Humans; D007668:Kidney; D008969:Molecular Sequence Data; D051762:PAX2 Transcription Factor; D017422:Sequence Analysis, DNA; D012689:Sequence Homology, Nucleic Acid; D013045:Species Specificity; D014157:Transcription Factors / Q000235:genetics*
D018076:DNA, Complementary; D004268:DNA-Binding Proteins; D051762:PAX2 Transcription Factor; C497318:PAX2 protein, human; D014157:Transcription Factors