Adenosine deaminase: characterization and expression of a gene with a remarkable promoter.

摘要: Cosmid clones containing the gene for human adenosine deaminase (ADA) were isolated. The is 32 kb long and split into 12 exons. exact sizes boundaries of exon blocks including transcription start sites determined. sequence upstream from this cap site lacks TATA CAAT boxes characteristic eukaryotic promoters. Nevertheless, we have shown in a functional assay that stretch 135 bp immediately preceding has promoter activity. This 135-bp DNA fragment extremely rich G/C residues (82%). It contains three inverted repeats allow formation cruciform structures, 10-bp 16-bp direct repeat five G/C-rich motifs (GGGCGGG) disposed strikingly symmetrical fashion. Some these structural features also found region other genes discuss their possible function. Knowledge positions intron-exon allowed us to propose models abnormal RNA processing occurs previously investigated ADA-deficient cell lines.