Figure 1

Characterization of mutation c-57-64delCACGCGGT;c-55G>C in the 5′ UTR of HNF1A. (A) Location of mutation c-57-64delCACGCGGT;c-55G>C in the 5′-UTR of the HNF1A gene and missense mutations in the HNF-1α protein. The HNF1A cDNA (upper panel) and the functional domains of HNF-1α protein (lower panel) are schematically represented. In the protein, amino acids 1–33 contain the dimerization domain (DD). DNA binding domain, including POU_S and POU_H homeodomains, is located between amino acids 100–281. The transactivation domain is spanning the C-terminal half part of the protein. The positions of the mutations analyzed are indicated. (B) Transcription of HNF1A is impaired by the c-57-64delCACGCGGT;c-55G>C mutation. Min6 cells, grown on six-well culture dishes, were cotransfected with the indicated amount of plasmids pGL3basic, pGL3-1AP and pGL3-1APm and 250 ng pCMVβ. Cells were harvested 24 h after transfection and assayed for luciferase and β-galactosidase activities. Luciferase activities, normalized to β-galactosidase, were relative to pGL3basic activity (arbitrarily given as 1). Data represent means ± SEM of four experiments done in duplicate. ^*P ≤ 0.05.