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HNF4A Haploinsufficiency in MODY1 Abrogates Liver and Pancreas Differentiation from Patient-Derived Induced Pluripotent Stem Cells.

Published version
Peer-reviewed

Type

Article

Change log

Authors

Ng, Natasha Hui Jin 
Jasmen, Joanita Binte 
Lim, Chang Siang 
Lau, Hwee Hui 
Krishnan, Vidhya Gomathi 

Abstract

Maturity-onset diabetes of the young 1 (MODY1) is a monogenic diabetes condition caused by heterozygous HNF4A mutations. We investigate how HNF4A haploinsufficiency from a MODY1/HNF4A mutation influences the development of foregut-derived liver and pancreatic cells through differentiation of human induced pluripotent stem cells from a MODY1 family down the foregut lineage. In MODY1-derived hepatopancreatic progenitors, which expressed reduced HNF4A levels and mislocalized HNF4A, foregut genes were downregulated, whereas hindgut-specifying HOX genes were upregulated. MODY1-derived hepatocyte-like cells were found to exhibit altered morphology. Hepatic and β cell gene signatures were also perturbed in MODY1-derived hepatocyte-like and β-like cells, respectively. As mutant HNF4A (p.Ile271fs) did not undergo complete nonsense-mediated decay or exert dominant negativity, HNF4A-mediated loss of function is likely due to impaired transcriptional activation of target genes. Our results suggest that in MODY1, liver and pancreas development is perturbed early on, contributing to altered hepatic proteins and β cell defects in patients.

Description

Keywords

Developmental Biology, Diabetology, Molecular Mechanism of Gene Regulation, Stem Cells Research

Journal Title

iScience

Conference Name

Journal ISSN

2589-0042
2589-0042

Volume Title

16

Publisher

Elsevier BV
Sponsorship
Cambridge University Hospitals NHS Foundation Trust (CUH) (146281)
European Research Council (693878)
Medical Research Council (MC_PC_12009)
Medical Research Council (G0701448)
European Research Council (741707)