Figure 1.
Schematic depiction of the predicted secondary structure of hTERC. This schematic depiction is as proposed by Chen et al.2 The 8-base template sequence (rectangle) and other structural features are indicated, including the core, CR4-CR5, box H/ACA, and CR7 domains, and the hypervariable paired region. Mutations associated with DC are indicated in red; those associated with AA, MDS, or PNH are in green. The G228A and G58A variants (in blue) are fully active in vitro (Fu and Collins,17 Marrone et al,27 and the present study) and also found in healthy individuals, and may be functionally inconsequential. Δ denotes nucleotide deletion (see Figure 2A for details). Nucleotide deletions are indicated by thick lines, whereas boxed regions show a large deletion that completely removes the sequences of the box H/ACA and CR7 domains.