Academy of Finland
Funding decision
Applicant / Contact person Frilander, Mikko
Organisation University of Helsinki
Project title Integrative approach to minor spliceosome regulatory networks
Decision No. 328518
Decision date 03.12.2019
Funding period 01.01.2020 - 31.12.2022
Funding 250 000
WebFOCUS Report
Project description
We are proposing to study a well defined gene network containing 169 genes sharing similar intron features. Our preliminary work has identified a protein component within the spliceosome that is necessary for the proper recognition and removal of these introns. Mutations in this gene lead to human disease Mosaic Variegated Aneuploidy syndrome (MVA) which is characterized by defects in chromosomal segregation. We will integrate several large datasets, including gene expression data (RNAseq), proteome data (proteome changes, interactions) to to gain multilevel insight to the molecular causes of this disease. Additionally this approach will help to define the interaction network within this group of genes.