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

Genomics. 1995 Jan 1;25(1):93-9. doi: 10.1016/0888-7543(95)80113-z.

Abstract

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' 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' 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.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alternative Splicing*
  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Blood Proteins / biosynthesis
  • Blood Proteins / genetics
  • Calmodulin-Binding Proteins / biosynthesis*
  • Calmodulin-Binding Proteins / genetics*
  • Chromosomes, Human, Pair 4*
  • Codon
  • Cosmids
  • Cricetinae
  • DNA Primers
  • DNA Transposable Elements
  • Exons
  • Gene Library
  • Hominidae / genetics*
  • Humans
  • Hybrid Cells
  • Molecular Sequence Data
  • Point Mutation
  • Polymerase Chain Reaction
  • Restriction Mapping
  • Sequence Deletion
  • Sequence Homology, Nucleic Acid

Substances

  • Blood Proteins
  • Calmodulin-Binding Proteins
  • Codon
  • DNA Primers
  • DNA Transposable Elements
  • adducin

Associated data

  • GENBANK/L29286
  • GENBANK/L29287
  • GENBANK/L29288
  • GENBANK/L29289
  • GENBANK/L29290
  • GENBANK/L29291
  • GENBANK/L29292
  • GENBANK/L29293
  • GENBANK/L29294
  • GENBANK/L29295
  • GENBANK/L29296
  • GENBANK/L29297
  • GENBANK/L29298