Cloning of mouse sepiapterin reductase gene and characterization of its promoter region

We have isolated and characterized similar to 5 kb mouse sepiapterin reduct ase gene (Spr) and a highly homologous pseudogene (Sprp). The authentic Spr gene is present as a single copy in the mouse genome and is composed of th ree exons containing the entire coding region. The primer extension experim ent located the transcription initiation site in a putative pyrimidine-rich Inr element. The promoter region of the Spr gene is embedded within a CpG island. It was shown that the promoter region is devoid of distinctive TATA and CAAT boxes. Transient transfection of a series of 5' deletion derivati ves of the Spr promoter showed the sequence between -83 and -51 to be essen tial for promoter activity. The pseudogene Sprp lacks promoter region and e xon 3. (C) 1999 Elsevier Science B.V. All rights reserved.