title: Isolation and characterization of the complete mouse emerin gene.
abstract: Emery-Dreifuss muscular dystrophy (EMD) is an X-linked recessive disorder associated with muscle wasting, contractures, and cardiomyopathy. The responsible emerin gene has recently been identified and found to encode a serine-rich protein similar to lamina-associated protein 2 (LAP2), although the disease mechanism remains obscure. In order to pursue the pathophysiology of this disorder, we report here the isolation and characterization of the complete mouse emerin gene. The emerin cDNA was isolated from murine strain BALB/c, and the emerin gene was isolated from strain 129. The 2.9-kb mouse emerin gene was completely sequenced and found to be composed of 6 exons and encode a protein 73% identical to that of the human protein. Key similarities with LAP2 were found to be conserved, including critical LAP2 phosphorylation sites. Examination of the murine promoter revealed three previously unrecognized cAMP response elements (CRE) conserved between human and mouse. While Northern analysis shows emerin to be widely expressed in the mouse, as it is in humans, these promoter elements may indicate cAMP responsiveness. These data provide the necessary elements to further investigate EMD in a murine system.
authors.affiliation: Howard Hughes Medical Institute and Department of Biochemistry, Emory University School of Medicine, Room 4035 Rollins Research Center, 1510 Clifton Road, Atlanta, Georgia 30322, USA.
authors.forename: K
authors.initials: K
authors.lastname: Small
authors.forename: M
authors.initials: M
authors.lastname: Wagener
authors.forename: S T
authors.initials: ST
authors.lastname: Warren
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002874:Chromosome Mapping; D017124:Conserved Sequence; D017931:DNA Primers / Q000235:genetics; D018076:DNA, Complementary / Q000235:genetics; D004268:DNA-Binding Proteins; D004195:Disease Models, Animal; D008040:Genetic Linkage; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D051379:Mice / Q000235:genetics*; D008807:Mice, Inbred BALB C; D008969:Molecular Sequence Data; D009136:Muscular Dystrophies / Q000235:genetics; D009137:Muscular Dystrophy, Animal / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics; D051381:Rats; D017386:Sequence Homology, Amino Acid; D012689:Sequence Homology, Nucleic Acid; D013045:Species Specificity; D013946:Thymopoietins / Q000235:genetics*; D014960:X Chromosome / Q000235:genetics
chemical_list: D017931:DNA Primers; D018076:DNA, Complementary; D004268:DNA-Binding Proteins; D008565:Membrane Proteins; D009687:Nuclear Proteins; D013946:Thymopoietins; C092710:emerin; C093413:lamina-associated polypeptide 2