Figure 5.

Functional characterization of Spinal Muscular Atrophy (SMA) Δ7 mice injected with self-complementary adenovirus-associated virus 9 (scAAV9) -4xsU7. (a) U7-ESE-B RNA expression measured by reverse transcriptase-quantitative polymerase chain reaction (RT-qPCR). In two separate injection experiments, mice were injected with 8 × 10¹³ vg/kg of the same preparation of scAAV9 4xsU7 (AAV1 and AAV2) or with phosphate-buffered saline (PBS) as control (PBS1 and PBS2). For each experiment, the data of AAV-injected SMA animals and PBS-injected carriers have been averaged. Numbers in parentheses indicate the numbers of animals. The values of all PBS-injected animals were below the 1% threshold limit of the graph. (b) Expression of exon 7-containing SMN2 mRNA. a.u., arbitrary units, expression levels were normalized with respect to actin mRNA and the numbers multiplied by 1,000. Numbers of AAV-injected (Smn1−/−) animals: two for lung, kidney, diaphragm; four for other tissues. PBS injected controls (Smn1 −/− and +/−): four and seven, respectively. Asterisk: statistical relevance (P = 0.0107, two-sided T-test). Error bars indicate standard deviations. (c) Detection of alternatively spliced Ubiquitin Specific Peptidase Like 1 (Uspl1) transcripts by reverse transcriptase-polymerase chain reaction (RT-PCR). All RNA samples used in this figure were isolated from 10 day old mice.