Department of Nutrition, Genetics, and Ethology, Faculty of Veterinary Medicine, Ghent University, Merelbeke, Belgium.
Neuromuscul Disord. 2012 Jun;22(6):558-65. doi: 10.1016/j.nmd.2012.01.008. Epub 2012 Feb 15.
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.
KCNA1、KCNA2、KCNA6 和 KCNQ2 与人类周围神经兴奋性过高有关。为了确定这些基因是否也与具有类似肌阵挛和神经肌强直综合征的杰克罗素梗犬有关，首先对这些基因的犬科同源物进行了实验验证。发现它们要么注释不完整，要么甚至不正确，主要是由于犬基因组序列存在缺口和转录本数据不足。犬 KCNQ2 被发现含有 20 个编码外显子，其中 3 个在人类中没有描述。它在一只狗的额叶皮层中至少编码了 14 种不同的转录变体，其中只有 4 种在人类中也有描述。在被诊断为周围神经兴奋性过高的杰克罗素梗犬中进行的突变检测未发现与发病机制相关的结构突变。然而，KCNQ2 的四个错义序列变异和 14 种转录变体将有助于研究电压门控钾通道的功能多样性。
