Figure 3

Mutational spectrum, structure and expression of TMPRSS3 isoforms. (A) Coding and non-coding exons of all the known isoforms of TMPRSS3 are shown with black and gray rectangles, respectively. The newly identified isoform e has translation initiation codon (arrow) in exon 1, while the termination codon in exon 13 is marked with an asterisk. Shown also are predicted protein motifs encoded by the 3192 bp long mRNA of isoform e. All the known mutant alleles of TMPRSS3 causing hearing loss are shown above the protein motifs. Modified and updated from Ben-Yosef et al. 2001 [5] (B) Nucleotide sequence of the cDNA encoding the amino terminus of TMPRSS3e and its deduced amino acid sequence. The underlined nucleotide sequence represents the region predicted by SMART to encode a signal peptide. The last ATG shown is the reported translation initiation site for isoform a [4]. (C) RT-PCR specific to the TMPRSS3e transcript was performed on cDNA from seven human tissues, which include retina, lung, liver, heart, pancreas, placenta and kidney as indicated. All tissues, except heart, demonstrated expression of TMPRSS3e. G3PDH was used as a positive control.