Genomic organization of the human {alpha}-adducin gene and its alternately spliced isoforms
- Univ. of British Columbia (Canada); and others
The cDNA for the human {alpha}-adducin gene has been cloned, and different alternately spliced forms have been identified. We report the complete genomic organization of the human {alpha}-adducin gene and these alternately spliced forms. The human {alpha}-adducin gene, spanning approximately 85 kb, consists of 16 exons ranging in size from 34 to 1892 bp. One of the spliced forms of the human {alpha}-adducin gene results from alternate use of the 5{prime} splice donor site for exon 10, while another results in a truncated protein following insertion of 34 bp comprising exon 15, followed by a premature stop codon. This alternate spliced form of {alpha}-adducin is predicted to result in an altered carboxyl terminus that would eliminate a protein kinase and calmodulin binding site. Seven nucleotide substitutions and 4 insertion/deletions were also identified. The 5{prime} region of the human {alpha}-adducin gene contains one Sp1 site, two AP2 sites, and two CAAT boxes. No TATA box was apparent, consistent with features of a housekeeping gene. We have mapped another cDNA within the first intron of the human {alpha}-adducin gene, suggesting overlapping genes in this 4p16.3 genomic region. 40 refs., 3 figs., 2 tabs.
- OSTI ID:
- 241070
- Journal Information:
- Genomics, Vol. 25, Issue 1; Other Information: PBD: 1 Jan 1995
- Country of Publication:
- United States
- Language:
- English
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