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Figure 1 | BMC Genetics

Figure 1

From: Contrasting effects of Deadend1 (Dnd1) gain and loss of function mutations on allelic inheritance, testicular cancer, and intestinal polyposis

Figure 1

Structure of the Dnd1 , Dnd1Terand Dnd1KOgenes and their inferred predicted protein products. Gene arrangements are displayed above the solid line, and the corresponding protein product is displayed below the solid line. Dnd1 has two isoforms: α-Dnd1 and β-Dnd1 which differ in the amino-terminus of the protein. Dnd1 has an RNA recognition motif (RRM) in the C-terminal portion of exon 3. The HRAAAMA motif that is presumably part of the putative ATPase domain is located between amino acids 181–186 in the mouse genome. SNPs identified in human TGCTs include a (1) Glu86Ala [25] and (2) an Asp219Glu [24]. In the mouse, the Ter mutation creates a premature stop-codon at amino acid 178 (★3), which is located 37 nucleotides from the 3′ most exon-exon junction. The rat Ter mutation has the premature stop codon at amino acid 289 (★4) within exon 4. The RRM is intact in both mouse and rat Dnd1 mutants allowing these proteins to possibly recognize and bind to target RNAs; the putative ATPase domain is lost in the mouse Dnd1Ter and truncated in rat Dnd1Ter. The Dnd1KO allele retains the 3′ most portion of exon 3 and exon 4, but does not have a transcriptional start site.

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