Mutation of hepatocyte nuclear factor–1β inhibits Pkhd1 gene expression and produces renal cysts in mice
J. Clin. Invest. Thomas Hiesberger, et al. 113:814 doi:10.1172/JCI20083 [Go to this article.]

Figure 1
Sequence of the Pkhd1 promoter. (A) Alignment of the mouse (upper) and human (lower) Pkhd1 promoters. Short vertical line indicates identity. Dash indicates gaps introduced to optimize the alignment. Bent arrow indicates the transcription initiation site at +1. Solid underlines indicate exon 1. Dashed underlines indicate the DNA fragment used for EMSA. Boxes indicate evolutionarily conserved transcription factor–binding sites identified using the ConSite program (conservation 75%, window 50, transcription factor threshold 80%). Nucleotides in b type indicate the site-directed mutations M1–M3. The sequence of the mouse Pkhd1 promoter has been deposited in the GenBank database (accession number AY544205). (B) Mapping of the transcription initiation site by primer extension. Arrows indicate products corresponding to transcription initiation sites at +1 (144 bp) and +17 (128 bp) in kidney RNA (lanes 2 and 3) but not in yeast tRNA (lane 1). (C) Plot of the percentage of identity between the mouse (blue) and human (green) promoters. Horizontal line indicates 75% identity.