Fig. 2.

Aberrant splicing of senataxin in patients with AOA2. a Total peripheral blood RNA from the proband (P) and her mother (M) as well as an unrelated normal control individual (C) was used for RT-PCR with primers amplifying across exons 15 and 17 (black arrows) followed by internal nested primers (gray arrows). Exons are shown in genomic context with intronic sequences indicated by dashed lines. The detected spliced products (shown) either include or exclude exon 16 (291 or 189 base pairs, respectively). HPRT was amplified as a positive control (489 base pair product). Size markers are indicated in base pairs. The predicted effect on senataxin protein is shown graphically with the DNA/RNA helicase domain (aa 1931–2456) indicated by a black line and an in-frame deletion shown by the dashed segment. b Previously published senataxin mutations which affect RNA splicing are shown with the corresponding mutation (arrow) in the genomic context. The abnormal splicing event is indicated by boxes, and the resulting effect on the protein is shown graphically as in part a. Protein truncation is shown by a dashed line