Project description:Phenotypic characterisation of our zebrafish sfpq homozygous mutants revealed a restricted set of specific defects, unexpected for a protein expressed ubiquitously and involved in such general mechanisms. The CNS was prominently affected, showing brain boundary and axonal defects associated with absence of motility. To investigate a possible specificity in SFPQ functional targets by microarray RNA profiling analysis, comparing the transcriptome of the sfpq homozygous mutants with its wild type and heterozygous siblings at the earliest stage at which the phenotype is robustly recognizable.
Project description:In this dataset we performed RNA-seq on pools of livers dissected at 120 hpf from dnmt1(s904) mutants and phenotipically wild-type looking siblings.
Project description:The goal of this study was to analyse the effects of the SFPQ-TFE3 fusion by transforming kidney tubuloids with the construct. Samples without the construct (luciferase only) and overexpressing the partner only (TFE3) were also used as controls. Furthermore, transformed organoids were also transferred into mice PDX models to check their tumorigenic potential; tumors derived from the organoids were subsequently used for sequencing.