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

Transgenic rescue of alternative-splicing changes in Phax and Smn mutants. (A) UCSC browser shots of mapped read tracks for four of the top 15 identified alternative splicing changes. (B) qRT-PCR analysis of intron retention in Phax^SH/SH mutants versus Phax^SH/SH mutants expressing a UAS-Phax transgene from the armadillo promoter driven GAL4 (Arm > Phax). (C) qRT-PCR of intron retention in Smn^X7/D mutants versus Smn^X7/X7 mutants expressing a wild-type Smn transgene from its native promoter. For B and C, levels of WT intron retention were set at one. (D) Western blot for dUTPase. Alternate protein isoforms reflect alternative-splicing change in dUTPase mRNA. Wild-type Smn transgene in Smn^X7/X7 background = Tg:Smn^WT. Long dUTPase protein isoform = PA and short = PB.