title: Structure and expression of the murine muscle adenylosuccinate synthetase gene.
abstract: A muscle-specific isoform of adenylosuccinate synthetase (AdSS1, EC) is one of three enzymes that constitute the purine nucleotide cycle, a muscle-specific metabolic cycle. Previously, we showed that the muscle Adss1 gene was highly expressed in both skeletal muscle and heart of the adult mouse. Here we have shown that the Adss1 gene is initially activated early in embryonic development in skeletal muscle and heart precursors and is subsequently up-regulated perinatally. The earliest detectable gene expression corresponds with the establishment of the first myogenic and cardiac lineages. To allow identification of the genetic signals controlling this developmental pattern of expression, the Adss1 gene was cloned and its structure determined. Transgenic analysis has shown that 1.9 kilobase pairs of 5' flank can activate expression in skeletal muscle progenitors and direct enhanced expression to adult cardiac muscle. Sequence analysis of the promoter and 5' flanking region revealed the presence of numerous potential muscle-specific cis-regulatory elements.
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.
authors.forename: A L
authors.initials: AL
authors.lastname: Lewis
authors.forename: O M
authors.initials: OM
authors.lastname: Guicherit
authors.forename: S K
authors.initials: SK
authors.lastname: Datta
authors.forename: G R
authors.initials: GR
authors.lastname: Hanten
authors.forename: R E
authors.initials: RE
authors.lastname: Kellems
mesh_terms: D000227:Adenine Nucleotides / Q000378:metabolism; D000265:Adenylosuccinate Synthase / Q000235:genetics*; D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002874:Chromosome Mapping; D015971:Gene Expression Regulation, Enzymologic; D051379:Mice; D008822:Mice, Transgenic; D008969:Molecular Sequence Data; D018482:Muscle, Skeletal / Q000201:enzymology*; D009206:Myocardium / Q000201:enzymology; D016366:Open Reading Frames; D011401:Promoter Regions, Genetic; D014158:Transcription, Genetic
chemical_list: D000227:Adenine Nucleotides; D000265:Adenylosuccinate Synthase