Genotype distribution and allele frequencies of the genes associated with reproductive traits and hereditary disorders in Japanese native horses
Genotype distribution and allele frequencies of the genes associated with reproductive traits and hereditary disorders in Japanese native horses
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DOI：
10.5924/abgri.47.29
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发表时间：
2019
期刊：
影响因子：
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通讯作者：
R. C. Paul;Yuki Okuda;T. B. Nguyen;T. Le;T. Ibi;Y. Kawamoto;K. Nozawa;T. Kunieda
中科院分区：
文献类型：
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作者：
R. C. Paul;Yuki Okuda;T. B. Nguyen;T. Le;T. Ibi;Y. Kawamoto;K. Nozawa;T. Kunieda
北海道马、木索马、野马、太树马、Misaki马、Tokara马、宫古马、Yonaguni马等8个品种目前被保存为日本本土马。为了揭示其生殖性状和遗传疾病的遗传特性对其育种和保护计划具有重要意义，我们研究了8个日本本土马品种的生殖性状和遗传疾病相关基因的基因型分布和等位基因频率。我们对FKBP6 （G . 11040315g >A和G . 11040379c >A）、CRISP3 （c.622G>A和c.716A>G）和PLCZ1 （G . 45586821c >T）基因的单核苷酸多态性进行了基因分型，发现FKBP6和CRISP3基因的理想等位基因和不良等位基因都存在于种群中，而PLCZ1只存在于这些种群中。我们还对GYS1 （c.926G>A）、RYR1 （c.7360C>G）和SCN4A （c.4248C>G）基因的单核苷酸多态性进行了基因分型，这些基因分别与多糖储存性肌病、恶性高热症和高钾血症性周期性麻痹相关，并发现在日本本土马品种的种群中不存在与这些遗传疾病相关的突变等位基因。这些发现将为这些马品种的未来育种和保护计划提供信息。
Eight breeds of horse, namely Hokkaido, Kiso, Noma, Taishu, Misaki, Tokara, Miyako, and Yonaguni horses, have currently been conserved as the Japanese native horse. Since to uncover their genetic properties involved in reproductive traits and hereditary disorders is important for their breeding and conservation programs, we investigated genotype distribution and allele frequencies of the genes associated with reproductive traits and hereditary disorders in the populations of the eight Japanese native horse breeds. We genotyped single nucleotide polymorphisms of FKBP6 (g.11040315G>A and g.11040379C>A), CRISP3 (c.622G>A and c.716A>G), and PLCZ1 (g.45586821C>T) genes associated with stallion fertility including semen qualities and impaired acrosome reaction, and found that both desirable and undesirable alleles of FKBP6 and CRISP3 genes are present in the populations, while only undesirable allele of PLCZ1 was observed in these populations. We also genotyped single nucleotide polymorphisms of GYS1 (c.926G>A), RYR1 (c.7360C>G), and SCN4A (c.4248C>G) genes which are associated with polysaccharide storage myopathy, malignant hyperthermia, and hyperkalaemic periodic paralysis, respectively, and found that no mutant alleles responsible for these hereditary disorders are present in the populations of Japanese native horse breeds. These findings will be informative for future breeding and conservation programs for these horse breeds.