title: The human ryanodine receptor gene: its mapping to 19q13.1, placement in a chromosome 19 linkage group, and exclusion as the gene causing myotonic dystrophy.
abstract: The recent cloning of cDNA encoding the Ca++ release channel (ryanodine receptor) of human sarcoplasmic reticulum has enabled us to use somatic cell hybrids to localize the ryanodine receptor gene (RYR) to the proximal long arm of human chromosome 19. Studies with additional hybrids containing deletions or translocations in chromosome 19 enabled us to localize RYR to 19q13.1 in a region distal to GPI/MAG and proximal to D19S18/DNF11. On the basis that the myotonic dystrophy (DM) locus maps near this region and that myotonia could result from a defect in the ryanodine receptor, we examined the linkage between the DM locus and RYR. Our results, showing several DM-RYR recombinants, rule out an RYR defect as the cause of DM. However, localization of RYR to a region of human chromosome 19 which is syntenic to an area of pig chromosome 6 containing the HAL gene responsible for porcine malignant hyperthermia supports the candidacy of RYR for this disorder.
authors.affiliation: Division of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Canada.
authors.forename: A E
authors.initials: AE
authors.lastname: MacKenzie
authors.forename: R G
authors.initials: RG
authors.lastname: Korneluk
authors.forename: F
authors.initials: F
authors.lastname: Zorzato
authors.forename: J
authors.initials: J
authors.lastname: Fujii
authors.forename: M
authors.initials: M
authors.lastname: Phillips
authors.forename: D
authors.initials: D
authors.lastname: Iles
authors.forename: B
authors.initials: B
authors.lastname: Wieringa
authors.forename: S
authors.initials: S
authors.lastname: Leblond
authors.forename: J
authors.initials: J
authors.lastname: Bailly
authors.forename: H F
authors.initials: HF
authors.lastname: Willard
mesh_terms: D015139:Blotting, Southern; D002118:Calcium; D002874:Chromosome Mapping; D002888:Chromosomes, Human, Pair 19; D005260:Female; D005796:Genes; D008040:Genetic Linkage; D006801:Humans; D006822:Hybrid Cells; D008126:Lod Score; D008297:Male; D009223:Myotonic Dystrophy / Q000235:genetics*; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D011950:Receptors, Cholinergic / Q000235:genetics*; D011995:Recombination, Genetic; D019837:Ryanodine Receptor Calcium Release Channel
chemical_list: D011950:Receptors, Cholinergic; D019837:Ryanodine Receptor Calcium Release Channel; D002118:Calcium