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. 2004 Feb 2;101(6):1662–1667. doi: 10.1073/pnas.0305473101

Fig. 2.

Fig. 2.

Mutations and polymorphisms in the nNOS exon 1c promoter in patients with IHPS. (A) Nucleotide sequence of human nNOS exon 1c (bold) and in part of the 5′-flanking region including the minimal promoter. The transcription start site is indicated as +1. Cis-acting elements previously determined by gel-shift assays and site-directed mutagenesis (25) are indicated by the lines above the sequence. Mutations (-277T → A, -273A → G, and -98A → G) detected in DNA probes of IHPS patients and the -84G/A SNP are shown in bold and numbered below the sequence relative to the transcription start site (+1). Arrows below the nucleotide sequence depict the 5′-deletion sites of the different nNOS pGL3 promoter constructs used in reporter gene assays (Fig. 3). (B) DNA sequence analysis of the nNOS exon 1c -84G/A SNP. (Left) G/G homozygous DNA. (Center) A/A homozygous DNA. (Right) G/A heterozygous DNA. The position of nucleotide -84 is indicated with an arrow.