Genomic organization of the human {alpha}-adducin gene and its alternately spliced isoforms

Journal Article · Sun Jan 01 04:00:00 EST 1995 · Genomics

DOI:https://doi.org/10.1016/0888-7543(95)80113-Z· OSTI ID:241070

Lin, B; Nasir, J; McDonald, H ^[1]

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1. 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, Journal Name: Genomics Journal Issue: 1 Vol. 25; ISSN 0888-7543; ISSN GNMCEP
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
CODONS
CONTIGS
DNA-CLONING
EXONS
GENES
GENETIC MAPPING
HUMAN CHROMOSOMES
INTRONS
MUTATIONS
NUCLEOTIDES
PROTEINS
SIZE
SPLICING
STRUCTURE-ACTIVITY RELATIONSHIPS