Transcriptomic comparison of Drosophila snRNP biogenesis mutants reveals mutant-specific changes in pre-mRNA processing: implications for Spinal Muscular Atrophy

RNA-seq analysis of Drosophila snRNP biogenesis mutants. In brief, the Phax and Ars2 mutant RNA-seq was used in combination with Series GSE49587 (Smn mutant and wild-type Oregon-R RNA-seq) to classify transcriptome changes as snRNP-dependent or mutant specific. Additional flies with Smn transgenes, containing Smn mutations that cause Spinal Muscular Atrophy (SMA) in humans, were then used to determine whether the snRNP-dependent or mutant specific changes were present in intermediate models of SMA. Overall design: RNA-seq of total and polyA-RNA from whole larvae of snRNP biogenesis mutants and total RNA from whole prepupae of Smn point mutants (SMA-causing mutations).