title: The exon-intron organization of the human erythroid beta-spectrin gene.
abstract: The human erythrocyte beta-spectrin gene DNA has been cloned from overlapping human genomic phage and cosmid recombinants. The entire erythroid beta-spectrin mRNA is encoded by 32 exons that range in size from 49 to 871 bases. The exon/intron junctions have been identified and the exons mapped. There is no correlation between intron positions and the repeat units of 106 amino acids within domain II of the beta-spectrin gene. The scatter of the introns over the 17 repeats argues against the 106-amino-acid unit representing a minigene that underwent repeated duplication resulting in the present beta-spectrin gene. In fact, the two largest exons, exon 14 (871 bp) and 16 (757 bp), extend over 4 and 3 repeat units of 106 amino acids, respectively, while repeat beta 10 is encoded by 4 exons. No single position of an intron in the beta-spectrin gene is conserved between any of the 17 beta-spectrin and 22 alpha-spectrin repeat units. The nucleotide sequences of the exon/intron boundaries conform to the consensus splice site sequences except for exon 20, whose 5' donor splice-site sequence begins with GC. The beta-spectrin isoform present in the human brain, the skeletal muscle, and the cardiac muscle is an alternatively spliced product of the erythroid beta-spectrin gene. This splice site is located within the coding sequences of exon 32 and its utilization in nonerythroid tissues leads to the use of 4 additional downstream exons with a size range of 44 to 530 bp.
authors.affiliation: Department of Internal Medicine, Yale University School of Medicine, New Haven, Connecticut 06510.
authors.forename: K M
authors.initials: KM
authors.lastname: Amin
authors.forename: A L
authors.initials: AL
authors.lastname: Scarpa
authors.forename: J C
authors.initials: JC
authors.lastname: Winkelmann
authors.forename: P J
authors.initials: PJ
authors.lastname: Curtis
authors.forename: B G
authors.initials: BG
authors.lastname: Forget
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D018076:DNA, Complementary; D004912:Erythrocytes / Q000378:metabolism*; D005091:Exons; D006801:Humans; D007438:Introns; D008969:Molecular Sequence Data; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D011994:Recombinant Proteins / Q000235:genetics; D012091:Repetitive Sequences, Nucleic Acid; D015183:Restriction Mapping; D013049:Spectrin / Q000235:genetics*
chemical_list: D018076:DNA, Complementary; D012333:RNA, Messenger; D011994:Recombinant Proteins; D013049:Spectrin