Am J Hum Genet. 1990 Jun;46(6):1082-9.

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.

MacKenzie AE, Korneluk RG, Zorzato F, Fujii J, Phillips M, Iles D, Wieringa B, Leblond S, Bailly J, Willard HF, et al.

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Division of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Canada.

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.

PMID:: 1971150; [PubMed - indexed for MEDLINE]
PMCID:: PMC1683814

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Cited by 7 PubMed Central articles

Detection of a novel mutation in the ryanodine receptor gene in an Irish malignant hyperthermia pedigree: correlation of the IVCT response with the affected and unaffected haplotypes. [J Med Genet. 1997]
Detection of a novel mutation in the ryanodine receptor gene in an Irish malignant hyperthermia pedigree: correlation of the IVCT response with the affected and unaffected haplotypes.
Keating KE, Giblin L, Lynch PJ, Quane KA, Lehane M, Heffron JJ, McCarthy TV. J Med Genet. 1997 Apr; 34(4):291-6.
Review The genetics of malignant hyperthermia. [J Med Genet. 1993]
Review The genetics of malignant hyperthermia.
Ball SP, Johnson KJ. J Med Genet. 1993 Feb; 30(2):89-93.
The Ca2+-release channel/ryanodine receptor is localized in junctional and corbular sarcoplasmic reticulum in cardiac muscle. [J Cell Biol. 1993]
The Ca2+-release channel/ryanodine receptor is localized in junctional and corbular sarcoplasmic reticulum in cardiac muscle.
Jorgensen AO, Shen AC, Arnold W, McPherson PS, Campbell KP. J Cell Biol. 1993 Feb; 120(4):969-80.

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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.

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