Structural analysis of the porcine skeletal muscle ryanodine receptor gene coding region 3385 to 4623

1996 ◽  
Vol 7 (2) ◽  
pp. 152-154
Author(s):  
T. Leeb ◽  
B. Brenig
Keyword(s):  
Skeletal Muscle ◽  
Structural Analysis ◽  
Ryanodine Receptor ◽  
Receptor Gene ◽  
Coding Region ◽  
Gene Coding

Genomic Organization of the Porcine Skeletal Muscle Ryanodine Receptor (RYR1) Gene Coding Region 4624 to 7929

Genomics ◽  
1993 ◽  
Vol 18 (2) ◽  
pp. 349-354 ◽  
Author(s):  
Tosso Leeb ◽  
Sabine Schmölzl ◽  
Gottfried Brem ◽  
Bertram Brenig
Keyword(s):  
Skeletal Muscle ◽  
Ryanodine Receptor ◽  
Genomic Organization ◽  
Coding Region ◽  
Ryr1 Gene ◽  
Gene Coding

Excitation-contraction uncoupling and muscular degeneration in mice lacking functional skeletal muscle ryanodine-receptor gene

Nature ◽  
1994 ◽  
Vol 369 (6481) ◽  
pp. 556-559 ◽  
Author(s):  
Hiroshi Takeshima ◽  
Masamitsu lino ◽  
Hiroaki Takekura ◽  
Miyuki Nishi ◽  
Junko Kuno ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Ryanodine Receptor ◽  
Receptor Gene

A brain-specific transcript from the 3′-terminal region of the skeletal muscle ryanodine receptor gene

FEBS Letters ◽  
1993 ◽  
Vol 322 (2) ◽  
pp. 105-110 ◽  
Author(s):  
Hiroshi Takeshima ◽  
Seiichiro Nishimura ◽  
Miyuki Nishi ◽  
Michiko Ikeda ◽  
Tetsuo Sugimoto
Keyword(s):  
Skeletal Muscle ◽  
Ryanodine Receptor ◽  
Receptor Gene ◽  
Terminal Region ◽  
Specific Transcript

Regulation of skeletal muscle dihydropyridine receptor gene expression by biomechanical unloading

1992 ◽  
Vol 72 (6) ◽  
pp. 2510-2514 ◽  
Author(s):  
S. Kandarian ◽  
S. O'Brien ◽  
K. Thomas ◽  
L. Schulte ◽  
J. Navarro
Keyword(s):  
Skeletal Muscle ◽  
Mrna Expression ◽  
Muscle Mass ◽  
Receptor Gene ◽  
Coding Region ◽  
Hindlimb Unweighting ◽  
Receptor Mrna ◽  
Receptor Cdna ◽  
Slow Twitch ◽  
Fast Twitch

Biomechanical unloading of the rat soleus by hindlimb unweighting is known to induce atrophy and a slow- to fast-twitch transition of skeletal muscle contractile properties, particularly in slow-twitch muscles such as the soleus. The purpose of this study was to determine whether the expression of the dihydropyridine (DHP) receptor gene is upregulated in unloaded slow-twitch soleus muscles. A rat DHP receptor cDNA was isolated by screening a random-primed cDNA lambda gt10 library from denervated rat skeletal muscle with oligonucleotide probes complementary to the coding region of the rabbit DHP receptor cDNA. Muscle mass and DHP receptor mRNA expression were assessed 1, 4, 7, 14, and 28 days after hindlimb unweighting in rats by tail suspension. Isometric twitch contraction times of soleus muscles were measured at 28 days of unweighting. Northern blot analysis showed that tissue distribution of DHP receptor mRNA was specific for skeletal muscle and expression was 200% greater in control fast-twitch extensor digitorum longus (EDL) than in control soleus muscles. A significant stimulation (80%) in receptor message of the soleus was induced as early as 24 h of unloading without changes in muscle mass. Unloading for 28 days induced marked atrophy (control = 133 +/- 3 vs. unweighted = 62.4 +/- 1.8 mg), and expression of the DHP receptor mRNA in the soleus was indistinguishable from levels normally expressed in EDL muscles. These changes in mRNA expression are in the same direction as the 37% reduction in time to peak tension and 28% decrease in half-relaxation time 28 days after unweighting. Our results suggest that muscle loading necessary for weight support modulates the expression of the DHP receptor gene in the soleus muscle.

scholarly journals Identification and Biochemical Characterization of a Novel Ryanodine Receptor Gene Mutation Associated with Malignant Hyperthermia

2008 ◽  
Vol 108 (2) ◽  
pp. 208-215 ◽  
Author(s):  
Ayuk A. Anderson ◽  
Rosemary L. Brown ◽  
Brenda Polster ◽  
Neil Pollock ◽  
Kathryn M. Stowell
Keyword(s):  
Skeletal Muscle ◽  
Malignant Hyperthermia ◽  
B Lymphocytes ◽  
Ryanodine Receptor ◽  
Calcium Release ◽  
Dna Analysis ◽  
Biochemical Characterization ◽  
Receptor Gene ◽  
Diagnostic Tools

Background Mutations in the skeletal muscle ryanodine receptor gene may result in altered calcium release from sarcoplasmic reticulum stores, giving rise to malignant hyperthermia (MH). MH is a pharmacogenetic skeletal muscle disorder triggered by volatile anesthetics and depolarizing muscle relaxants. Diagnosis of MH is by in vitro contracture testing of quadriceps muscle. DNA analysis of causative mutations is limited by the large number of mutations that cosegregate with MH and the relatively few that have been biochemically characterized. Methods DNA sequence analysis was used to screen the skeletal muscle ryanodine receptor gene in MH-susceptible individuals. A diagnostic test using real-time polymerase chain reaction was developed to detect the mutation in individuals diagnosed as MH susceptible by in vitro contracture testing. The functional relevance of this mutation was examined in Epstein-Barr virus-immortalized B-lymphoblastoid cells. Results A novel ryanodine receptor mutation (cytosine 14997 thymine resulting in a histidine 4833 tyrosine substitution) was identified in pathology specimens from two patients with fatal MH reactions. B lymphocytes from patients with this mutation were approximately twofold more sensitive than MH-negative cells to activation with 4-chloro-m-cresol. The amount of Ca released from B lymphocytes of MH-susceptible patients was significantly greater than that released from cells of family members without this mutation. Haplotype analysis suggests that both families had a common ancestor. Conclusions DNA analysis to detect mutations which cosegregate with MH as well as biochemical assays on cultured lymphocytes obtained from blood can serve as useful diagnostic tools for MH susceptibility and genotype-phenotype correlations.

Sign in / Sign up

Export Citation Format

Share Document