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PMID: 3839456 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

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

The EMBO journal ·Vol. 4 ·No. 2 ·1985-02-00 ·Pages 437-43

Valerio D, Duyvesteyn MG, Dekker BM, Weeda G, Berkvens TM, van der Voorn L, van Ormondt H, van der Eb AJ

Abstract

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

MeSH Terms
Adenosine Deaminase/genetics Base Sequence Cells, Cultured DNA/genetics DNA, Recombinant Gene Expression Regulation Genes Humans Nucleic Acid Conformation Nucleoside Deaminases/genetics Promoter Regions, Genetic RNA, Messenger/genetics
Chemicals
DNA, Recombinant RNA, Messenger DNA Nucleoside Deaminases Adenosine Deaminase
Authors & Affiliations
8 authors, click to expand affiliations / ORCID
Valerio D
Duyvesteyn M G
Dekker B M
Weeda G
Berkvens T M
van der Voorn L
van Ormondt H
van der Eb A J
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Article Info
Journal
The EMBO journal
Abbr.
EMBO J
ISSN
0261-4189
Published
1985-02-00
Pages
437-43
Language
English
Region
England
NLM ID
8208664
PMCID
PMC554205
Subset
IM
Databases
GENBANK
M11816, M11817, M11818, M11819, M11820, M11821, M11822, M11823, M11824, M11825, M11826, X02994
External Links
PubMed source PMC Full Text View journal details
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