Experimental validation of in silico predicted KCNA1, KCNA2, KCNA6 and KCNQ2 genes for association studies of peripheral nerve hyperexcitability syndrome in Jack Russell Terriers
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Abstract
KCNA1, KCNA2, KCNA6 and KCNQ2 are associated with peripheral nerve hyperexcitability
in humans. In order to determine if these genes are also involved in Jack Russell
Terriers with a similar syndrome characterized by myokymia and neuromyotonia, their
predicted canine orthologs were first validated experimentally. They were found either
incompletely or even incorrectly annotated, mainly due to gaps in the canine genomic
sequence and insufficient transcript data. Canine KCNQ2 was found to contain 20 coding
exons, of which three are not described in humans. It encodes for at least 14 different
transcript variants in the frontal cortex of a single dog, of which only four are
also described in humans. Mutation detection in Jack Russell Terriers diagnosed with
peripheral nerve hyperexcitability revealed no pathogenetic relevant structural mutations.
However, the four missense sequence variations and the 14 transcript variants of KCNQ2
will contribute to the study of the functional diversity of voltage-gated potassium
channels.