Partial DNA sequence of the erythroid-specific promoter of PKLR.

A 469-bp region comprising the upstream regulatory domain and exon 1 down to the ATG codon as used in this study. Conserved elements (from Kanno et al9) between the human and rat PK-R promoter are depicted by dotted lines. The cytosine identified as the PK-R transcriptional start site5 is underlined. GATA-1, CAC/Sp1 motifs, and the novel regulatory element PKR-RE1, as reported in this study, in the upstream 270-bp region are shown in boxes (orientation indicated by arrows). The 3 in cis mutations, as identified in our patient, are indicated above their corresponding nucleotides (in capital letters) in the promoter sequence.