Figure 3. .

Chromosomal location, domain organization, and expression of TOPORS. A, Schematic representation of exon-intron structure of TOPORS and domain structure of its protein, including the RING-type zinc-finger domain, RS domain, nuclear localization signal (NLS), lysine-histidine domain, PEST region, N-amino-terminal (N), and carboxyl-terminal (C). Both mutations (p.Tyr825fs and p.Arg851fs) are shown with asterisks (*). B, RT-PCR analysis of TOPORS transcript in human tissues: PCR was performed with primers selected from exon 3 (with 28 cycles). A band of 2.69 kb was observed in all the tested QUICK-Clone cDNAs (Clontech) from retina, brain, kidney, liver, heart, skeletal muscle, pancreas, lung, and placenta. A ubiquitously expressed gene, PGM1, was used as a control.