Transcriptomic comparison of Drosophila snRNP biogenesis mutants reveals mutant-specific changes in pre-mRNA processing: implications for spinal muscular atrophy

Analysis of steady-state snRNA levels and alternative splicing of target genes in SMN missense mutants. (A) qRT-PCR analysis of intron retention of flies expressing SMA patient-derived missense mutations. Transgenic animals of the following generalized genotype were used: Smn^X7/X7, Flag-Smn^Tg/−, where Tg represents a WT, V72G, Y107C, or T205I transgene. Intron retention in the Smn^WT transgenic rescue line was set at one. (B) Northern blots of snRNA levels in the missense mutant lines. (C) Quantification of snRNA levels from panel B. RNA levels in the Smn^WT (WT) transgenic line were set at 100.