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- W2012090460 abstract "Hepatocyte nuclear factor (HNF)1α is a homeodomaincontaining transcription factor participating in the regulation of gene expression in liver, kidney, gut and pancreas of vertebrates. In humans mutations in the HNF1α gene are responsible for one form of maturity onset diabetes of the young (MODY3). To define the molecular mechanism underlying MODY3 we investigated the functional properties of seven MODY3- associated mutations representing the spectrum of different kinds of mutations affecting all functional domains of the protein. The mutations introduced into an expression vector encoding human HNF1α include inframe deletion (ΔN127), nonsense (Q7X, R171X), frameshift (P291fsinsC) and missense (R229Q, P447L, T620I) mutations. Gel retardation and reporter gene assays showed that the functional properties of these mutants differ dramatically, but none of these mutants act in a dominant negative manner. Moreover, the mRNA stability of the mutants ΔN127, R171X, P291fsinsC and T547E548fsdelTG is impaired compared to the wildtype sequence in transfected cells. This decreased RNA stability is independent of the presence of an intron in the expression vector and thus differs from mechanisms known to be involved in nonsensemediated decay (NMD). Our results suggest that haploinsufficiency of HNF1α is responsible for the pathogenesis of MODY3." @default.
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- W2012090460 date "2002-01-13" @default.
- W2012090460 modified "2023-10-16" @default.
- W2012090460 title "Evidence for Haploinsufficiency of the Human HNF1α Gene Revealed by Functional Characterization of MODY3-Associated Mutations" @default.
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- W2012090460 doi "https://doi.org/10.1515/bc.2002.190" @default.
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