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

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 delet...

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Bibliographic Details
Published in:American journal of human genetics 1990-06, Vol.46 (6), p.1082-1089
Main Authors: MACKENZIE, A. E, KORNELUK, R. G, DUFF, C, WORTON, R. G, MACLENNAN, D. H, ZORZATO, F, FUJII, J, PHILLIPS, M, ILE, D, WIERINGA, B, LEBLOND, S, BAILLY, J, WILLARD, H. F
Format: Article
Language:English
Subjects:
Biological and medical sciences
Blotting, Southern
Calcium
chromosome 19
Chromosome Mapping
Chromosomes, Human, Pair 19
Classical genetics, quantitative genetics, hybrids
Female
Fundamental and applied biological sciences. Psychology
Genes
Genetic Linkage
Genetics of eukaryotes. Biological and molecular evolution
Human
Humans
Hybrid Cells
Lod Score
Male
Myotonic Dystrophy - genetics
Original
Pedigree
Polymorphism, Restriction Fragment Length
Receptors, Cholinergic - genetics
Recombination, Genetic
Ryanodine Receptor Calcium Release Channel
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Summary: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.
ISSN:0002-9297
1537-6605