Complete sequence and structure of the gene for human adenosine deaminase

• Published in: Biochemistry (Easton) 1986-12, Vol.25 (25), p.8234-8244
• Main Authors: Wiginton, D A, Kaplan, D J, States, J C, Akeson, A L, Perme, C M, Bilyk, I J, Vaughn, A J, Lattier, D L, Hutton, J J
• Format: Article
• Language: English
• Subjects: Adenosine Deaminase - genetics; Amino Acid Sequence; Bacteriophage lambda - genetics; Base Sequence; Cloning, Molecular; DNA - metabolism; DNA Restriction Enzymes; Exons; Female; Genes; Humans; Introns; Nucleoside Deaminases - genetics; Placenta - enzymology; Pregnancy; Transcription, Genetic
• ISSN: 0006-2960
• DOI: 10.1021/bi00373a017

The nucleotide sequence of the human adenosine deaminase gene was determined. The gene was isolated in a series of overlapping lambda phage clones containing human germ line DNA. A total of 36,741 base pairs were sequenced, including 32,040 base pairs from the transcription initiation site to the polyadenylation site, 3935 base pairs of 5'-flanking DNA, and 766 base pairs of 3'-flanking DNA. The gene contains 12 exons separated by 11 introns. The exons range in size from 62 to 325 base pairs while the introns are 76-15 166 base pairs in size. The area sequenced contains 23 copies of Alu repetitive DNA and a single copy of an "O" family repeat. All but one of these repeat sequences are located in the first three introns or the 5'-flanking region. The apparent promoter region of the gene lacks the "TATA" and "CAAT" sequences often found in eucaryotic promoters and is extremely G/C rich. Contained within this region are areas homologous to other G/C-rich promoters, including six decanucleotide sequences that are highly homologous to sequences identified as functional binding sites for transcription factor Sp1.