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Title: Functional defect of truncated hepatocyte nuclear factor-1α (G554fsX556) associated with maturity-onset diabetes of the young
Authors: Suwattanee Kooptiwut
Jatuporn Sujjitjoon
Nattachet Plengvidhya
Watip Boonyasrisawat
Nalinee Chongjaroen
Prapapron Jungtrakoon
Namoiy Semprasert
Hiroto Furuta
Kishio Nanjo
Napatawn Banchuin
Pa thai Yenchitsomanus
Mahidol University
Faculty of Medicine, Siriraj Hospital, Mahidol University
Wakayama Medical University
Thailand National Center for Genetic Engineering and Biotechnology
Keywords: Biochemistry, Genetics and Molecular Biology
Issue Date: 22-May-2009
Citation: Biochemical and Biophysical Research Communications. Vol.383, No.1 (2009), 68-72
Abstract: A novel frameshift mutation attributable to 14-nucleotide insertion in hepatocyte nuclear factor-1α (HNF-1α) encoding a truncated HNF-1α (G554fsX556) with 76-amino acid deletion at its carboxyl terminus was identified in a Thai family with maturity-onset diabetes of the young (MODY). The wild-type and mutant HNF-1α proteins were expressed by in vitro transcription and translation (TNT) assay and by transfection in HeLa cells. The wild-type and mutant HNF-1α could similarly bind to human glucose-transporter 2 (GLUT2) promoter examined by electrophoretic mobility shift assay (EMSA). However, the transactivation activities of mutant HNF-1α on human GLUT2 and rat L-type pyruvate kinase (L-PK) promoters in HeLa cells determined by luciferase reporter assay were reduced to approximately 55-60% of the wild-type protein. These results suggested that the functional defect of novel truncated HNF-1α (G554fsX556) on the transactivation of its target-gene promoters would account for the β-cell dysfunction associated with the pathogenesis of MODY. © 2009 Elsevier Inc. All rights reserved.
ISSN: 10902104
Appears in Collections:Scopus 2006-2010

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