title: Genomic organization of the porcine skeletal muscle ryanodine receptor (RYR1) gene coding region 4624 to 7929.
abstract: Excitation-contraction coupling in skeletal muscle is mediated by two calcium channels located in the membranes of the transverse tubule and the sarcoplasmic reticulum. Calcium is released from the terminal cisternae of the sarcoplasmic reticulum via the ryanodine receptor. Abnormal increases in myoplasmic free calcium caused by a defect in the ryanodine receptor have been reported in malignant hyperthermia. Malignant hyperthermia is a life-threatening pharmacogenetic disorder in a variety of species and is triggered by volatile anesthetics and depolarizing muscle relaxants. To study the genomic organization of the porcine skeletal muscle ryanodine receptor gene, we have isolated six genomic fragments spanning approximately 80 kb of chromosomal DNA. In this report, we describe the genomic organization of a 15.5-kb genomic fragment comprising 18 exons coding for region 4624 to 7929 of the porcine skeletal muscle ryanodine receptor gene.
authors.affiliation: Department of Molecular Animal Breeding, Max-Planck Institute of Biochemistry, University of Munich, Martinsried, Federal Republic of Germany.
authors.forename: T
authors.initials: T
authors.lastname: Leeb
authors.forename: S
authors.initials: S
authors.lastname: Schmölzl
authors.forename: G
authors.initials: G
authors.lastname: Brem
authors.forename: B
authors.initials: B
authors.lastname: Brenig
mesh_terms: D000818:Animals; D001483:Base Sequence; D015220:Calcium Channels / Q000235:genetics*; D004247:DNA; D005091:Exons; D006801:Humans; D008297:Male; D008305:Malignant Hyperthermia / Q000235:genetics / Q000662:veterinary; D008969:Molecular Sequence Data; D009124:Muscle Proteins / Q000235:genetics*; D009132:Muscles / Q000378:metabolism*; D019837:Ryanodine Receptor Calcium Release Channel; D012689:Sequence Homology, Nucleic Acid; D013552:Swine; D013553:Swine Diseases / Q000235:genetics
chemical_list: D015220:Calcium Channels; D009124:Muscle Proteins; D019837:Ryanodine Receptor Calcium Release Channel; D004247:DNA