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

Publication Type:Journal Article
Year of Publication:1992
Authors:HARBITZ, I, KRISTENSEN, T, BOSNES, M, KRAN, S, DAVIES, W
Journal:Animal Genetics
Volume:23
Issue:5
Date Published:1992
ISBN Number:1365-2052
Keywords:calcium release channel, cDNA sequence, Fringillidae, mutation detection, porcine, Serinus, Serinus serinus
Abstract:Summary. Porcine calcium release channel (CRC) cDNA from skeletal muscle has been cloned and sequenced. The deduced amino acid sequence showed 97% identity to the corresponding rabbit and human sequences. Using oligonucleotide primers based on the nucleotide sequence, CRC cDNA fragments from seven pigs representing HALNN, HALNn and HALNn genotypes have been amplified. Sequencing and restriction digestion of the amplified cDNA confirm that the reported C→ T mutation, which gives rise to Arg615 →Cys615 change in the calcium release channel, is associated with the halothane sensitive allele in Norwegian Landrace pigs. The mutation may alter the reactivity of a neighbouring serine residue which is potentially phosphorylated.
URL:http://dx.doi.org/10.1111/j.1365-2052.1992.tb02157.x
Short Title:Animal Genetics
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