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The RYR1 g.1843C>T mutation is associated with the effect of the IGF2 intron3-g.3072G>A mutation on muscle hypertrophy.

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اقرأ على الانترنت اقرأ أكثر حفظ في قائمتي
  • معلومة اضافية
    • المصدر:
      Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 8605704 Publication Model: Print Cited Medium: Print ISSN: 0268-9146 (Print) Linking ISSN: 02689146 NLM ISO Abbreviation: Anim Genet Subsets: MEDLINE
    • بيانات النشر:
      Publication: Oxford, England : Wiley-Blackwell
      Original Publication: Oxford, England : Published by Blackwell Scientific Publications for the International Society for Animal Blood Group Research, c1986-
    • الموضوع:
      Point Mutation*; Muscular Diseases/*veterinary ; Ryanodine Receptor Calcium Release Channel/*genetics ; Somatomedins/*genetics ; Swine Diseases/*genetics; Animals ; Body Composition/genetics ; Hypertrophy/genetics ; Hypertrophy/veterinary ; Introns ; Muscles/pathology ; Muscular Diseases/genetics ; Muscular Diseases/pathology ; RNA, Messenger/metabolism ; Swine ; Swine Diseases/pathology
    • نبذة مختصرة :
      Muscle growth is a complex phenomenon regulated by many factors, whereby net growth results from the combined action of synthesis and turnover. In pigs, two quantitative trait nucleotides (QTN) are known to have an important influence on muscle growth and fat deposition: one QTN is located in the ryanodine receptor 1 (RYR1) gene (RYR1 g.1843C>T) and the other, a paternally expressed QTN, is in the insulin-like growth factor 2 (IGF2) gene (IGF2 intron3-g.3072G>A). The mutation in IGF2 abrogates in vitro interaction with a repressor, which leads to a threefold increase of IGF2 expression in post-natal muscle. The family of the calpains, a family of Ca(2+)-sensitive muscle endopeptidases, and their specific inhibitor calpastatin play an important role in post-natal protein degradation, also influencing muscle and carcass traits. This study investigated the possible interactions between the genotypes of the RYR1 and IGF2 QTN on IGF2 expression. Samples were taken from several muscles and from pigs at several ages, and messenger RNA expression levels were measured using a real-time quantification assay. IGF2 expression in m. longissimus dorsi of animals with mutations in both IGF2 and RYR1 was significantly lower than in animals that inherited the IGF2 mutation but were homozygous wildtype for RYR1.
    • الرقم المعرف:
      0 (RNA, Messenger)
      0 (Ryanodine Receptor Calcium Release Channel)
      0 (Somatomedins)
    • الموضوع:
      Date Created: 20070130 Date Completed: 20070403 Latest Revision: 20220318
    • الموضوع:
      20250114
    • الرقم المعرف:
      10.1111/j.1365-2052.2006.01558.x
    • الرقم المعرف:
      17257191