Collaboration PrePrint: MODY mutations in transcription factors HNF1A and HNF1B affect the production of interferon signaling proteins: evidence at the proteome level

Our collaboration with our neighbouring lab continues with Ksenia performing quantitative label-free mass spectrometry, by employing both data-dependent and data-independent acquisition methods, on our cell line model for HNF1A “hot-spot” mutation. Lucas performed in vitro differentiation until pancreatic progenitor stage and provided these cells and iPSCs cells to be compared at proteom level. The dataset analyses revealed consistent suppression of energy metabolism and interferon signaling pathways, which were confirmed by pathway and protein interaction analyses. Several predicted transcriptional targets, including A1CF, were significantly downregulated in cells carrying the HNF1A frameshift mutation.

These results are now submitted for publication, and available also in BioRxiv server.

 

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MODY mutations in transcription factors HNF1A and HNF1B affect the production of interferon signaling proteins: evidence at the proteome level

Authors: Ksenia G Kuznetsova, Jakub Vašíček, Dafni Skiadopoulou, Lucas Unger, Rachel Anand Nethala, Michael Wierer, Luiza Ghila, Stefan Johansson, Pål Rasmus Njølstad, Simona Chera, Bente Berg Johansson, Alisa Manning,  Marc Vaudel

BioRxiv

DOI information: https://doi.org/10.1101/2025.11.24.690114