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Chunk #14 — Results and discussion — Differences in the levels of exon skipping in different tissues

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Variation in alternative splicing across human tissues.
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An example of a conserved exon-skipping event observed in human and mouse brain tissue is shown in Figure 2a for the human fragile X mental retardation syndrome-related (FXR1) gene [35,36]. In this event, skipping of the exon alters the reading frame of the downstream exon, presumably leading to production of a protein with an altered and truncated carboxy terminus. The exon sequence is perfectly conserved between the human and mouse genomes, as are the 5' splice site and 3' splice site sequences (Figure 2a), suggesting that this AS event may have an important regulatory role [37-39].