title: MACF1 gene structure: a hybrid of plectin and dystrophin.
abstract: Mammalian MACF1 (Macrophin1; previously named ACF7) is a giant cytoskeletal linker protein with three known isoforms that arise by alternative splicing. We isolated a 19.1-kb cDNA encoding a fourth isoform (MACF1-4) with a unique N-terminus. Instead of an N-terminal actin-binding domain found in the other three isoforms, MACF1-4 has eight plectin repeats. The MACF1 gene is located on human Chr 1p32, contains at least 102 exons, spans over 270 kb, and gives rise to four major isoforms with different N-termini. The genomic organization of the actin-binding domain is highly conserved in mammalian genes for both plectin and BPAG1. All eight plectin repeats are encoded by one large exon; this feature is similar to the genomic structure of plectin. The intron positions within spectrin repeats in MACF1 are very similar to those in the dystrophin gene. This demonstrates that MACF1 has characteristic features of genes for two classes of cytoskeletal proteins, i.e., plectin and dystrophin.
authors.affiliation: Kresge Hearing Research Institute, Department of Otolaryngology/Head Neck Surgery, 9301E MSRB III, 1150 W. Medical Center Dr., Box 0648, University of Michigan, Ann Arbor, MI 48109-0648, USA.
authors.forename: T W
authors.initials: TW
authors.lastname: Gong
authors.forename: C G
authors.initials: CG
authors.lastname: Besirli
authors.forename: M I
authors.initials: MI
authors.lastname: Lomax
mesh_terms: D017398:Alternative Splicing; D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D003001:Cloning, Molecular; D004247:DNA / Q000737:chemistry / Q000235:genetics; D016189:Dystrophin / Q000235:genetics; D005091:Exons; D005260:Female; D015870:Gene Expression; D005796:Genes / Q000235:genetics; D006801:Humans; D007381:Intermediate Filament Proteins / Q000235:genetics; D007438:Introns; D008297:Male; D051379:Mice; D008810:Mice, Inbred C57BL; D008840:Microfilament Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D051190:Plectin; D020033:Protein Isoforms / Q000235:genetics; D012313:RNA / Q000235:genetics / Q000378:metabolism; D016415:Sequence Alignment; D017422:Sequence Analysis, DNA; D017386:Sequence Homology, Amino Acid
chemical_list: D016189:Dystrophin; D007381:Intermediate Filament Proteins; C095003:MACF1 protein, human; C490632:Macf1 protein, mouse; D008840:Microfilament Proteins; C495332:PLEC protein, human; C495333:Plec protein, mouse; D051190:Plectin; D020033:Protein Isoforms; D012313:RNA; D004247:DNA