Periodic paralysis in Quarter Horses: a sodium channel mutation disseminated by selective breeding
Authors:
- Sharon J. SpierSSSharon J. Spier
- Glen ByrnsGBGlen Byrns
- Cecilia V. RojasCRCecilia V. Rojas
- Domenico BernocoDBDomenico Bernoco
- Eric P. HoffmanEHEric P. Hoffman
- 1 October 1992
- journal article
- Published by Springer Nature in Nature Genetics
- Vol. 2 (2) , 144-147
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.Keywords
This publication has 22 references indexed in Scilit:
- Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenitaNeuron, 1992
- Construction and comparison of chromosome 21 radiation hybrid and linkage maps using CRI-MAPCytogenetic and Genome Research, 1992
- Temperature-sensitive mutations in the III–IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenitaCell, 1992
- Identification of a mutation in the gene causing hyperkalemic periodic paralysisCell, 1991
- The Genetics of Thoroughbred HorsesScientific American, 1991
- A sodium channel defect in hyperkalemic periodic paralysis: Potassium-induced failure of inactivationNeuron, 1991
- Hyperkalemic Periodic Paralysis and the Adult Muscle Sodium Channel α-Subunit GeneScience, 1990
- Primary structure and expression of a sodium channel characteristic of denervated and immature rat skeletal muscleNeuron, 1990
- Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms.Proceedings of the National Academy of Sciences, 1989
- Adynamia episodica hereditaria with myotonia: A non‐inactivating sodium current and the effect of extracellular pHMuscle & Nerve, 1987