Identification of a Mutation in Porcine Ryanodine Receptor Associated with Malignant Hyperthermia
- 26 July 1991
- journal article
- research article
- Published by American Association for the Advancement of Science (AAAS) in Science
- Vol. 253 (5018) , 448-451
- https://doi.org/10.1126/science.1862346
Abstract
Malignant hyperthermia (MH) causes neurological, liver, and kidney damage and death in humans and major economic losses in the swine industry. A single point mutation in the porcine gene for the skeletal muscle ryanodine receptor (ryr1) was found to be correlated with MH in five major breeds of lean, heavily muscled swine. Haplotyping suggests that the mutation in all five breeds has a common origin. Assuming that this is the causal mutation for MH, the development of a noninvasive diagnostic test will provide the basis for elimination of the MH gene or its controlled inclusion in swine breeding programs.Keywords
This publication has 22 references indexed in Scilit:
- ErratumMolecular and Cellular Biochemistry, 1990
- Assignment of the porcine calcium release channel gene, a candidate for the malignant hyperthermia locus, to the 6p11 → q21 segment of chromosome 6Genomics, 1990
- Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermiaNature, 1990
- Primary structure and functional expression of the inositol 1,4,5-trisphosphate-binding protein P400Nature, 1989
- Primary structure and expression from complementary DNA of skeletal muscle ryanodine receptorNature, 1989
- Porcine malignant hyperthermia carrier detection and chromosomal assignment using a linked probeAnimal Genetics, 1988
- Primer-Directed Enzymatic Amplification of DNA with a Thermostable DNA PolymeraseScience, 1988
- Phosphate burst in permeable muscle fibers of the rabbitBiophysical Journal, 1986
- Calcium‐induced Ca2+ release from sarcoplasmic reticulum of pigs susceptible to malignant hyperthermiaFEBS Letters, 1983