Noncanonical splicing in medulloblastoma onset and progression

Obiettivo:

Noncanonical splicing occurs when the splicing machinery uses unconventional mechanisms and cryptic sites to regulate gene expression, with a deep impact on cell proliferation and fate. Recent advances in our capability of detecting noncanonical splicing events shed light on their involvement in developmental and cancer-related processes. Here we characterized different medulloblastoma (MB) transcriptional subgroups, based on expression profiles and deregulation patterns. Through the detection and quantification of trans-splicing and back-splicing (i.e., noncolinear splicing) in MB groups, healthy foetal and adult brains, we want to reveal splicing program alterations involved in cancer transformation. Aided by advanced causal inference techniques, our ultimate goal is to uncover critical biomarkers in the onset and progression of MB, and its relationships with human nervous system development.