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Sci Rep:在C57BL/6 and 129S1/Sv小鼠中,Cdh23单核苷酸替换对年龄相关听力损失的影响和同类系的比较

2017-03-27 AlexYang MedSci原创

钙黏蛋白23基因(Cdh23c.753A)的单个核苷酸多态性(SNV)在许多同系交配的小鼠种系普遍存在,并且可以促进年龄相关的听力损失(AHL)和恶化其他突变体的听觉表型。最近,研究人员在C57BL/6NJ (B6N) 和 129S1/SvImJ (129S1)胚胎干细胞中利用同源重组来产生相对的单碱基对替代小鼠种系(B6-Cdh23c.753A>G 和129S1-Cdh23c.753G&g

钙黏蛋白23基因(Cdh23c.753A)的单个核苷酸多态性(SNV)在许多同系交配的小鼠种系普遍存在,并且可以促进年龄相关的听力损失(AHL)和恶化其他突变体的听觉表型。

最近,研究人员在C57BL/6NJ (B6N) 和 129S1/SvImJ (129S1)胚胎干细胞中利用同源重组来产生相对的单碱基对替代小鼠种系(B6-Cdh23c.753A>G 和129S1-Cdh23c.753G>A)。 研究人员比较了这些SNV小鼠与那些同类系小鼠和亲本(B6N和129S1)种系小鼠的听阈和耳蜗病理。研究结果证实了Cdh23c.753G 等位基因具有保护作用,即在B6小鼠中,阻止了年龄至少18个月大小鼠的高频听力损失。另外,Cdh23c.753A 等位基因的AHL诱导效应恶化了129S1小鼠的听力损失,并且129S-Cdh23c.753A SNV小鼠和129S1小鼠的听阈不同。研究人员利用B6-Cdh23ahl 同类系小鼠,以及这些种系小鼠的回交定位了一个10号染色体的数量位点,并证明了该位点导致了上述差异。这些结果阐释了种系背景和同类系对听力损失有很大的影响,并且和Cdh23c.753等位基因相关。重要的是,B6-Cdh23c.753G 种系能够用来消除小鼠 Cdh23c.753A多态性对B6遗传背景的B6和突变体小鼠听力研究的混杂影响。

原始出处:

Kenneth R. Johnson, Cong Tian, Leona H. Gagnon et al. Effects of Cdh23 single nucleotide substitutions on age-related hearing loss in C57BL/6 and 129S1/Sv mice and comparisons with congenic strains. Sci Rep. 13 March 2017. doi:10.1038/srep44450

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    2017-04-11 xsm918
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    2017-03-29 ysjykql
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    2017-03-27 万里江山一孤舟

    学习了

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