Figure 1.
Mutational analyses.PIM1 (A), PAX5 (B), RhoH/TTF (C), and c-MYC (D) in NLPHL and cHL. Genomic loci are shown, with untranslated (open boxes) and translated (filled boxes) sequences; hatched boxes are relevant protein functional domains. Arrows indicate transcriptional start sites. Regions amplified for analysis are expanded for each gene and aligned with sequences of mutated NLPHL and cHL cases, shown below the loci. One line represents 2 alleles, where each small segment represents a 20-bp (PIM1, PAX5, RhoH/TTF) or a 40-bp (c-MYC) interval (numbering according to the relative GenBank accession numbers). Ovals indicate 1-bp substitution (red indicates resulted in missense mutation); brackets indicate deletions; plus indicates insertions. BTE indicates segment controlling block of transcriptional elongation; TAD, transactivation domain.