Figure 9.

Example of a previously uncharacterized gene. (a) A view from the UCSC Genome Browser displaying the predicted novel gene, located within an intron in the OTOA gene. At the top is a schematic drawing of the gene with exons shown as red boxes. Then follows two tracks with predicted splice junctions and a set of tracks with TRs, shown separately for each tissue. Below are schematic models of human RefSeq genes (in blue) and an N-SCAN gene prediction (in green) in the region. At the bottom is the structure of the human genome, showing the genomic rearrangement affecting exon five in the novel gene. (b) The results of the experimental validation with RT-PCR. Each gel represents one exon-exon junction. The first lane on the gels from the left is a 100-bp ladder (molecular weight marker, MWM), then follows the brain sample with (+RT) and without (-RT) reverse transcriptase, followed by the same set of experiments in the liver sample. Some of the PCR products are longer than expected, indicating that some of the exons are longer than initially predicted or that there may be additional exons in the gene model.