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

32Citations
Citations of this article
8Readers
Mendeley users who have this article in their library.
Get full text

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. © 1995 Academic Press, Inc.

Cite

CITATION STYLE

APA

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

Register to see more suggestions

Mendeley helps you to discover research relevant for your work.

Already have an account?

Save time finding and organizing research with Mendeley

Sign up for free