ryanodine receptor

Summary

Gene Symbol: ryanodine receptor
Description: ryanodine receptor 1
Alias: CRC, RYR, ryanodine receptor 1, CRC1, RYR1, RYR-1, calcium release channel (ryanodine receptor 1), halothane, porcine stress syndrome, skeletal muscle calcium release channel, skeletal muscle ryanodine receptor, skeletal muscle-type ryanodine receptor, type 1 ryanodine receptor
Species: pig
Products:     ryanodine receptor

Top Publications

  1. Brenig B, Brem G. Genomic organization and analysis of the 5' end of the porcine ryanodine receptor gene (ryr1). FEBS Lett. 1992;298:277-9 pubmed
    In this study we describe the isolation of genomic clones of the 5' region of the porcine ryanodine receptor gene, a candidate for malignant hyperthermia in pigs and humans...
  2. Quane K, Healy J, Keating K, Manning B, Couch F, Palmucci L, et al. Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia. Nat Genet. 1993;5:51-5 pubmed
    ..CCD has recently been shown to be tightly linked to the ryanodine receptor gene (RYR1) and mutations in this gene are known to be present in MH...
  3. Ta T, Pessah I. Ryanodine receptor type 1 (RyR1) possessing malignant hyperthermia mutation R615C exhibits heightened sensitivity to dysregulation by non-coplanar 2,2',3,5',6-pentachlorobiphenyl (PCB 95). Neurotoxicology. 2007;28:770-9 pubmed
    ..inheriting one of >60 missense mutations within the highly regulated microsomal Ca(2+) channel known as ryanodine receptor type 1 (RyR1)...
  4. Ciepielewski Z, Stojek W, Borman A, Myślińska D, Pałczyńska P, Kamyczek M. The effects of ryanodine receptor (RYR1) mutation on natural killer cell cytotoxicity, plasma cytokines and stress hormones during acute intermittent exercise in pigs. Res Vet Sci. 2016;105:77-86 pubmed publisher
    ..Homozygous (Hal(nn)), mutated pigs are sensitive to halothane and susceptible to Porcine Stress Syndrome (PSS)...
  5. Jiang J, Zhou Y, Zou J, Chen Y, Patel P, Yang J, et al. Site-specific modification of calmodulin Ca²(+) affinity tunes the skeletal muscle ryanodine receptor activation profile. Biochem J. 2010;432:89-99 pubmed publisher
    The skeletal muscle isoform of the ryanodine receptor Ca²(+)-release channel (RyR1) is regulated by Ca²(+) and CaM (calmodulin)...
  6. Stinckens A, Luyten T, Van den Maagdenberg K, Janssens S, De Smet S, Georges M, et al. Interactions between genes involved in growth and muscularity in pigs: IGF-2, myostatin, ryanodine receptor 1, and melanocortin-4 receptor. Domest Anim Endocrinol. 2009;37:227-35 pubmed publisher
    ..Until now, QTN involved in muscle growth and/or ADG in pigs were identified in porcine ryanodine receptor 1 (RYR1), insulin-like growth factor-2 (IGF-2), and melanocortin-4 receptor (MC4R)...
  7. Martins Wess F, Voss Nemitz R, Drogemuller C, Brenig B, Leeb T. Construction of a 1.2-Mb BAC/PAC contig of the porcine gene RYR1 region on SSC 6q1.2 and comparative analysis with HSA 19q13.13. Genomics. 2002;80:416-22 pubmed
    ..2-Mb BAC/PAC contig of the ryanodine receptor-1 gene (RYR1) region on porcine chromosome (SSC) 6q1.2...
  8. Schmoelzl S, Leeb T, Brinkmeier H, Brem G, Brenig B. Regulation of tissue-specific expression of the skeletal muscle ryanodine receptor gene. J Biol Chem. 1996;271:4763-9 pubmed
    The ryanodine receptors (RYR) are a family of calcium release channels that are expressed in a variety of tissues. Three genes, i. e...
  9. Leeb T, Brenig B. Structural analysis of the porcine skeletal muscle ryanodine receptor gene coding region 3385 to 4623. Mamm Genome. 1996;7:152-4 pubmed
  10. Fruen B, Balog E, Schafer J, Nitu F, Thomas D, Cornea R. Direct detection of calmodulin tuning by ryanodine receptor channel targets using a Ca2+-sensitive acrylodan-labeled calmodulin. Biochemistry. 2005;44:278-84 pubmed
    Calmodulin (CaM) activates the skeletal muscle ryanodine receptor (RyR1) at nanomolar Ca(2+) concentrations but inhibits it at micromolar Ca(2+) concentrations, indicating that binding of Ca(2+) to CaM may provide a molecular switch for ..

Detail Information

Publications24

  1. Brenig B, Brem G. Genomic organization and analysis of the 5' end of the porcine ryanodine receptor gene (ryr1). FEBS Lett. 1992;298:277-9 pubmed
    In this study we describe the isolation of genomic clones of the 5' region of the porcine ryanodine receptor gene, a candidate for malignant hyperthermia in pigs and humans...
  2. Quane K, Healy J, Keating K, Manning B, Couch F, Palmucci L, et al. Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia. Nat Genet. 1993;5:51-5 pubmed
    ..CCD has recently been shown to be tightly linked to the ryanodine receptor gene (RYR1) and mutations in this gene are known to be present in MH...
  3. Ta T, Pessah I. Ryanodine receptor type 1 (RyR1) possessing malignant hyperthermia mutation R615C exhibits heightened sensitivity to dysregulation by non-coplanar 2,2',3,5',6-pentachlorobiphenyl (PCB 95). Neurotoxicology. 2007;28:770-9 pubmed
    ..inheriting one of >60 missense mutations within the highly regulated microsomal Ca(2+) channel known as ryanodine receptor type 1 (RyR1)...
  4. Ciepielewski Z, Stojek W, Borman A, Myślińska D, Pałczyńska P, Kamyczek M. The effects of ryanodine receptor (RYR1) mutation on natural killer cell cytotoxicity, plasma cytokines and stress hormones during acute intermittent exercise in pigs. Res Vet Sci. 2016;105:77-86 pubmed publisher
    ..Homozygous (Hal(nn)), mutated pigs are sensitive to halothane and susceptible to Porcine Stress Syndrome (PSS)...
  5. Jiang J, Zhou Y, Zou J, Chen Y, Patel P, Yang J, et al. Site-specific modification of calmodulin Ca²(+) affinity tunes the skeletal muscle ryanodine receptor activation profile. Biochem J. 2010;432:89-99 pubmed publisher
    The skeletal muscle isoform of the ryanodine receptor Ca²(+)-release channel (RyR1) is regulated by Ca²(+) and CaM (calmodulin)...
  6. Stinckens A, Luyten T, Van den Maagdenberg K, Janssens S, De Smet S, Georges M, et al. Interactions between genes involved in growth and muscularity in pigs: IGF-2, myostatin, ryanodine receptor 1, and melanocortin-4 receptor. Domest Anim Endocrinol. 2009;37:227-35 pubmed publisher
    ..Until now, QTN involved in muscle growth and/or ADG in pigs were identified in porcine ryanodine receptor 1 (RYR1), insulin-like growth factor-2 (IGF-2), and melanocortin-4 receptor (MC4R)...
  7. Martins Wess F, Voss Nemitz R, Drogemuller C, Brenig B, Leeb T. Construction of a 1.2-Mb BAC/PAC contig of the porcine gene RYR1 region on SSC 6q1.2 and comparative analysis with HSA 19q13.13. Genomics. 2002;80:416-22 pubmed
    ..2-Mb BAC/PAC contig of the ryanodine receptor-1 gene (RYR1) region on porcine chromosome (SSC) 6q1.2...
  8. Schmoelzl S, Leeb T, Brinkmeier H, Brem G, Brenig B. Regulation of tissue-specific expression of the skeletal muscle ryanodine receptor gene. J Biol Chem. 1996;271:4763-9 pubmed
    The ryanodine receptors (RYR) are a family of calcium release channels that are expressed in a variety of tissues. Three genes, i. e...
  9. Leeb T, Brenig B. Structural analysis of the porcine skeletal muscle ryanodine receptor gene coding region 3385 to 4623. Mamm Genome. 1996;7:152-4 pubmed
  10. Fruen B, Balog E, Schafer J, Nitu F, Thomas D, Cornea R. Direct detection of calmodulin tuning by ryanodine receptor channel targets using a Ca2+-sensitive acrylodan-labeled calmodulin. Biochemistry. 2005;44:278-84 pubmed
    Calmodulin (CaM) activates the skeletal muscle ryanodine receptor (RyR1) at nanomolar Ca(2+) concentrations but inhibits it at micromolar Ca(2+) concentrations, indicating that binding of Ca(2+) to CaM may provide a molecular switch for ..
  11. Jiang D, Chen W, Xiao J, Wang R, Kong H, Jones P, et al. Reduced threshold for luminal Ca2+ activation of RyR1 underlies a causal mechanism of porcine malignant hyperthermia. J Biol Chem. 2008;283:20813-20 pubmed publisher
    Naturally occurring mutations in the skeletal muscle Ca(2+) release channel/ryanodine receptor RyR1 are linked to malignant hyperthermia (MH), a life-threatening complication of general anesthesia...
  12. Murayama T, Oba T, Hara H, Wakebe K, Ikemoto N, Ogawa Y. Postulated role of interdomain interaction between regions 1 and 2 within type 1 ryanodine receptor in the pathogenesis of porcine malignant hyperthermia. Biochem J. 2007;402:349-57 pubmed
    We have demonstrated recently that CICR (Ca2+-induced Ca2+ release) activity of RyR1 (ryanodine receptor 1) is held to a low level in mammalian skeletal muscle ('suppression' of the channel) and that this is largely caused by the ..
  13. Krzecio E, Kurył J, Koćwin Podsiadła M, Monin G. Association of calpastatin (CAST/MspI) polymorphism with meat quality parameters of fatteners and its interaction with RYR1 genotypes. J Anim Breed Genet. 2005;122:251-8 pubmed
    ..Significant interactions between CAST and RYR1 genotypes observed indicate that the quality of meat influenced by RYR1 genotype may be modified by the simultaneous influence of genotype as regards the CAST locus. ..
  14. Zhang Y, Chen H, Khanna V, de Leon S, Phillips M, Schappert K, et al. A mutation in the human ryanodine receptor gene associated with central core disease. Nat Genet. 1993;5:46-50 pubmed
    ..Since MH and CCD genes have been linked to the skeletal muscle ryanodine receptor (RYR1) gene, cDNA sequence analysis was used to search for a causal RYR1 mutation in a CCD ..
  15. Shen Q, Underwood K, Means W, McCormick R, Du M. The halothane gene, energy metabolism, adenosine monophosphate-activated protein kinase, and glycolysis in postmortem pig longissimus dorsi muscle. J Anim Sci. 2007;85:1054-61 pubmed
    The presence of the halothane gene results in PSE meat. However, the exact mechanisms linking the halothane gene and the incidence of PSE meat remain unclear...
  16. Cornea R, Nitu F, Gruber S, Kohler K, Satzer M, Thomas D, et al. FRET-based mapping of calmodulin bound to the RyR1 Ca2+ release channel. Proc Natl Acad Sci U S A. 2009;106:6128-33 pubmed publisher
    Calmodulin (CaM) functions as a regulatory subunit of ryanodine receptor (RyR) channels, modulating channel activity in response to changing [Ca(2+)](i)...
  17. Fujii J, Otsu K, Zorzato F, de Leon S, Khanna V, Weiler J, et al. Identification of a mutation in porcine ryanodine receptor associated with malignant hyperthermia. Science. 1991;253:448-51 pubmed
    ..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...
  18. Leeb T, Schmölzl S, Brem G, Brenig B. Genomic organization of the porcine skeletal muscle ryanodine receptor (RYR1) gene coding region 4624 to 7929. Genomics. 1993;18:349-54 pubmed
    ..To study the genomic organization of the porcine skeletal muscle ryanodine receptor gene, we have isolated six genomic fragments spanning approximately 80 kb of chromosomal DNA...
  19. Harbitz I, Chowdhary B, Thomsen P, Davies W, Kaufmann U, Kran S, et al. Assignment of the porcine calcium release channel gene, a candidate for the malignant hyperthermia locus, to the 6p11----q21 segment of chromosome 6. Genomics. 1990;8:243-8 pubmed
    ..to the possibility that malignant hyperthermia (MH) in pigs is caused by a defect in the calcium release channel (CRC) of skeletal muscle sarcoplasmic reticulum...
  20. Harbitz I, Kristensen T, Bosnes M, Kran S, Davies W. DNA sequence of the skeletal muscle calcium release channel cDNA and verification of the Arg615----Cys615 mutation, associated with porcine malignant hyperthermia, in Norwegian landrace pigs. Anim Genet. 1992;23:395-402 pubmed
    ..mutation, which gives rise to Arg615----Cys615 change in the calcium release channel, is associated with the halothane sensitive allele in Norwegian Landrace pigs...
  21. Wen G, Leeb T, Reinhart B, Schmoelzl S, Brenig B. The porcine skeletal muscle ryanodine receptor gene structure coding region 1 to 10614 harbouring 71 exons. Anim Genet. 1996;27:297-304 pubmed
    The skeletal muscle ryanodine receptor (RYR1) belongs to a family of calcium release channels that are expressed in different tissues...
  22. Biesmans L, Macquaide N, Heinzel F, Bito V, Smith G, Sipido K. Subcellular heterogeneity of ryanodine receptor properties in ventricular myocytes with low T-tubule density. PLoS ONE. 2011;6:e25100 pubmed publisher
    In ventricular myocytes of large mammals, not all ryanodine receptor (RyR) clusters are associated with T-tubules (TTs); this fraction increases with cellular remodeling after myocardial infarction (MI). ..
  23. Ciepielewski Z, Stojek W, Glac W, Myślińska D, Kwaczyńska A, Kamyczek M. The effects of ryanodine receptor 1 (RYR1) mutation on plasma cytokines and catecholamines during prolonged restraint in pigs. Vet Immunol Immunopathol. 2013;156:176-81 pubmed publisher
    ..The results suggest that of the cytokine parameters evaluated, IL-6, IL-10, IL-12 and TNF-? of the nn homozygous group seem to show a stronger stress-related response as compared with those of the other two (NN and Nn) groups. ..
  24. Ledbetter M, Preiner J, Louis C, Mickelson J. Tissue distribution of ryanodine receptor isoforms and alleles determined by reverse transcription polymerase chain reaction. J Biol Chem. 1994;269:31544-51 pubmed
    The tissue distribution of mRNA for ryanodine receptor (ryr) isoforms in various porcine tissues has been determined using the reverse transcription-polymerase chain reaction (RT-PCR)...