title: Leiomodins: larger members of the tropomodulin (Tmod) gene family.
abstract: The 64-kDa autoantigen D1 or 1D, first identified as a potential autoantigen in Graves' disease, is similar to the tropomodulin (Tmod) family of actin filament pointed end-capping proteins. A novel gene with significant similarity to the 64-kDa human autoantigen D1 has been cloned from both humans and mice, and the genomic sequences of both genes have been identified. These genes form a subfamily closely related to the Tmods and are here named the Leiomodins (Lmods). Both Lmod genes display a conserved intron-exon structure, as do three Tmod genes, but the intron-exon structure of the Lmods and the Tmods is divergent. mRNA expression analysis indicates that the gene formerly known as the 64-kDa autoantigen D1 is most highly expressed in a variety of human tissues that contain smooth muscle, earning it the name smooth muscle Leiomodin (SM-Lmod; HGMW-approved symbol LMOD1). Transcripts encoding the novel Lmod gene are present exclusively in fetal and adult heart and adult skeletal muscle, and it is here named cardiac Leiomodin (C-Lmod; HGMW-approved symbol LMOD2). Human C-Lmod is located near the hypertrophic cardiomyopathy locus CMH6 on human chromosome 7q3, potentially implicating it in this disease. Our data demonstrate that the Lmods are evolutionarily related and display tissue-specific patterns of expression distinct from, but overlapping with, the expression of Tmod isoforms.
authors.affiliation: Space Life Sciences, MS 239-11, NASA Ames Research Center, Moffett Field, CA 94035-1000, USA. cconley@mail.arc.nasa.gov
authors.forename: C A
authors.initials: CA
authors.lastname: Conley
authors.forename: K L
authors.initials: KL
authors.lastname: Fritz-Six
authors.forename: A
authors.initials: A
authors.lastname: Almenar-Queralt
authors.forename: V M
authors.initials: VM
authors.lastname: Fowler
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001324:Autoantigens / Q000096:biosynthesis / Q000737:chemistry / Q000235:genetics; D002352:Carrier Proteins / Q000096:biosynthesis / Q000235:genetics*; D002874:Chromosome Mapping; D002897:Chromosomes, Human, Pair 7; D019143:Evolution, Molecular; D020224:Expressed Sequence Tags; D020440:Gene Duplication; D015870:Gene Expression; D015894:Genome, Human; D006111:Graves Disease / Q000276:immunology; D006801:Humans; D051379:Mice; D008840:Microfilament Proteins; D008969:Molecular Sequence Data; D009130:Muscle, Smooth / Q000378:metabolism; D009206:Myocardium / Q000378:metabolism; D017386:Sequence Homology, Amino Acid; D014018:Tissue Distribution; D051348:Tropomodulin
chemical_list: D001324:Autoantigens; D002352:Carrier Proteins; D008840:Microfilament Proteins; C495829:TMOD1 protein, human; C495831:Tmod1 protein, mouse; D051348:Tropomodulin