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Abstract

We recently reported on a linkage study within a Quarter Horse lineage segregating hyperkalaemic periodic paralysis (HYPP), an autosomal dominant condition showing potassium-induced attacks of skeletal muscle paralysis. HYPP co-segregated with the equine adult skeletal muscle sodium channel alpha subunit gene, the same gene that causes human HYPP. We now describe the Phe to Leu mutation in transmembrane domain IVS3 which courses the horse disease. This represents the first application of molecular genetics to an important horse disease, and the data will provide an opportunity for control or eradication of this condition.

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Primary structure of Electrophorus electricus sodium channel deduced from cDNA sequence

Masaharu Noda, Shin Shimizu, Tsutomu Tanabe … (1984)

Cloning and sequence analysis of cDNA for the Electrophorus electricus electroplax sodium channel indicate that this protein, consisting of 1,820 amino acid residues, exhibits four repeated homology units, which are presumably oriented in a pseudosymmetric fashion across the membrane. Each homology unit contains a unique segment with clustered positively charged residues, which may be involved in the gating structure, possibly in conjunction with negatively charged residues clustered elsewhere.

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Primary structure and functional expression of a mammalian skeletal muscle sodium channel.

Andrew M Crean, Frances Boyle, S Tomiko … (1989)

We describe the isolation and characterization of a cDNA encoding the alpha subunit of a new voltage-sensitive sodium channel, microI, from rat skeletal muscle. The 1840 amino acid microI peptide is homologous to alpha subunits from rat brain, but, like the protein from eel electroplax, lacks an extended (approximately 200) amino acid segment between homologous domains I and II. Northern blot analysis indicates that the 8.5 kb microI transcript is preferentially expressed in skeletal muscle. Sodium channels expressed in Xenopus oocytes from synthetic RNA encoding microI are blocked by tetrodotoxin and mu-conotoxin at concentrations near 5 nM. The expressed sodium channels have gating kinetics similar to the native channels in rat muscle fibers, except that inactivation occurs more slowly.

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Identification of a mutation in the gene causing hyperkalemic periodic paralysis.

M Leppert, L Ptácek, R Barchi … (1991)

DNA from seven unrelated patients with hyperkalemic periodic paralysis (HYPP) was examined for mutations in the adult skeletal muscle sodium channel gene (SCN4A) known to be genetically linked to the disorder. Single-strand conformation polymorphism analysis revealed aberrant bands that were unique to three of these seven patients. All three had prominent fixed muscle weakness, while the remaining four did not. Sequencing the aberrant bands demonstrated the same C to T transition in all three unrelated patients, predicting substitution of a highly conserved threonine residue with a methionine in a membrane-spanning segment of this sodium channel protein. The observation of a distinct mutation that cosegregates with HYPP in two families and appears as a de novo mutation in a third establishes SCN4A as the HYPP gene. Furthermore, this mutation is associated with a form of HYPP in which fixed muscle weakness is seen.

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PubMed ID:: 1338908

DOI:: 10.1038/ng1092-144

ScienceOpen disciplines: Chemistry

Keywords: Amino Acid Sequence,Animals,DNA,genetics,DNA Mutational Analysis,Female,Genes, Dominant,Homozygote,Horse Diseases,Horses,Inbreeding,Male,Molecular Sequence Data,Paralyses, Familial Periodic,veterinary,Pedigree,Point Mutation,Sequence Homology, Amino Acid,Sodium Channels

Periodic paralysis in quarter horses: a sodium channel mutation disseminated by selective breeding.

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Most cited references 18

Primary structure of Electrophorus electricus sodium channel deduced from cDNA sequence

Primary structure and functional expression of a mammalian skeletal muscle sodium channel.

Identification of a mutation in the gene causing hyperkalemic periodic paralysis.

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