A ceRNA approach may unveil unexpected contributors to deletion syndromes, the model of 5q- syndrome

摘要: In genomic deletions, gene haploinsufficiency might directly configure a specific disease phenotype. Nevertheless, in some cases no functional association can be identified between haploinsufficient genes and the deletion-associated Transcripts act as microRNA sponges. The reduction of transcripts from hemizygous region may increase availability microRNAs, which turn exert in-trans regulation target outside deleted region, eventually contributing to Here we prospect competing endogenous RNA (ceRNA) approach for identification candidate epigenetic deletion syndromes. As model, analyzed 5q- myelodysplastic syndrome. Genes within common 5q CD34+ blasts were silico. Using miRWalk 2.0 platform, predicted microRNAs whose availability, thus activity, could enhanced by deletion, performed genomewide analysis that targeted miRNAs. pointed two with altered expression transcriptome, have never been related before. prospected allows investigating global transcriptional effect possibly prompting discovery unsuspected contributors Moreover, it help functionally characterizing previously reported unexpected interactions.