Minor intron splicing plays a central role in human embryonic development and survival. Indeed, biallelic mutations in RNU4ATAC, the gene transcribed into the minor spliceosomal U4atac snRNA, are responsible for a rare autosomal recessive disorder named microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1) or Taybi-Linder syndrome (TALS). RNU4ATAC is also involved in different and less severe developmental diseases, Roifman (RFMN) and Lowry-Wood (LWS) syndromes.
To gain knowledge on minor splicing and analyse U2 and U12 gene transcripts in TALS patients, we performed the first RNA-seq experiment on cells derived from three different types of biosamples, five skin, three amniotic fluid and one blood, obtained from seven unrelated TALS cases.
This Shiny Interface allows to explore the results presented in Cologne et al (2019) paper. Complete results of the different transcriptomic analysis are available: mutltivariate analysis (PCA), differential expression with DESeq2 and splicing analysis with 3 different tools (IRFinder, KisSplice and Vast-Tools).
Clara Benoit-Pilven - email@example.com - Institute for Molecular Medicine – Helsinki - Finland
COLOGNE A, BENOIT-PILVEN C, BESSON A, PUTOUX A, CAMPAN-FOURNIER A, BOBER MB, DE DIE-SMULDERS CEM, PAULUSSEN ADC, PINSON L, TOUTAIN, ROIFMAN CM, LEUTENEGGER AL, MAZOYER S, EDERY P and LACROIX V (2019) New insights into minor splicing – A transcriptomic analysis of cells derived from TALS patients. Manuscript submitted for publication.