Genomic organization of the human α-adducin gene and its alternately spliced isoforms

Biaoyang Lin, Jamal Nasir, Helen McDonald, Rona Graham, Johanna M. Rommens, Y. Paul Goldberg, Michael R. Hayden

    Research output: Contribution to JournalArticle

    Abstract

    The cDNA for the human α-adducin gene has been cloned, and different alternately spliced forms have been identified. We report the complete genomic organization of the human α-adducin gene and these alternately spliced forms. The human α-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 α-adducin gene results from alternate use of the 5′ 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 α-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′ region of the human α-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 α-adducin gene, suggesting overlapping genes in this 4p16.3 genomic region.
    Original languageEnglish
    Pages (from-to)93-99
    Number of pages7
    JournalGenomics
    Volume25
    Issue number1
    DOIs
    Publication statusPublished - 1 Jan 1995

    Keywords

    • Human gene
    • Genetics

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    Lin, B., Nasir, J., McDonald, H., Graham, R., Rommens, J. M., Goldberg, Y. P., & Hayden, M. R. (1995). Genomic organization of the human α-adducin gene and its alternately spliced isoforms. Genomics, 25(1), 93-99. https://doi.org/10.1016/0888-7543(95)80113-Z