Figure 1
From: Novel genetic linkage of rat Sp6 mutation to Amelogenesis imperfecta
Identification of a 2-bp insertion in Sp6 in AMI rats. A. Representative phenotype of WT and AMI rats. Photographs show mandibular incisors from each of the rats. B. The nucleotide sequence of Sp6 in wild-type (WT) and AMI rats. The 2-bp insertion is highlighted (red). The square represents the premature stop codon. The amino acid sequence deduced from the codons is shown below the nucleotide sequence. The altered amino acid sequence in Ami-SP6 is underlined. C. Schematic representation of SP6. The N-terminal region is located to the left. Black boxes represent the position of the zinc finger motifs. The box with diagonal lines shows the altered amino acid sequence in Ami-SP6. D. Western blot analyses. COS7 cells were transfected with an expression vector only (V) or with FLAG-tagged Wt- (W) or Ami- (A) cDNA. Samples were blotted with FLAG antibodies. E. Subcellular localization of FLAG-tagged SP6 by immunocytochemical analysis. Red, FLAG-tagged protein; Blue, Nuclei. F. Relative expression levels of Fst in WT and AMI molars.