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Complete sequence and structure of the gene for human adenosine deaminase.
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.
PMID: 3028473 [PubMed - indexed for MEDLINE]
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Cited by 34 PubMed Central articles
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Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles.
Arredondo-Vega FX, Santisteban I, Daniels S, Toutain S, Hershfield MS.
Am J Hum Genet. 1998 Oct; 63(4):1049-59.
[Am J Hum Genet. 1998]
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Genomic structure and chromosomal localization of the human deoxycytidine kinase gene.
Song JJ, Walker S, Chen E, Johnson EE 2nd, Spychala J, Gribbin T, Mitchell BS.
Proc Natl Acad Sci U S A. 1993 Jan 15; 90(2):431-4.
[Proc Natl Acad Sci U S A. 1993]
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Efficient selection of 3'-terminal exons from vertebrate DNA.
Krizman DB, Berget SM.
Nucleic Acids Res. 1993 Nov 11; 21(22):5198-202.
[Nucleic Acids Res. 1993]
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