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首页> 外文期刊>Human Molecular Genetics >Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans.
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Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans.

机译：小鼠和人类中编码钙粘蛋白23和原钙粘蛋白15的基因突变引起的耳聋双基因遗传。

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摘要

Mutations in genes coding for cadherin 23 and protocadherin 15 cause deafness in both mice and humans. Here, we provide evidence that mutations at these two cadherin loci can interact to cause hearing loss in digenic heterozygotes of both species. Using a classical genetic approach, we generated mice that were heterozygous for both Cdh23 and Pcdh15 mutations on a uniform C57BL/6J background. Significant levels of hearing loss were detected in these mice when compared to age-matched single heterozygous animals or normal controls. Cytoarchitectural defects in the cochlea of digenic heterozygotes, including degeneration of the stereocilia and a base-apex loss of hair cells and spiral ganglion cells, were consistent with the observed age-related hearing loss of these mice beginning with the high frequencies. In humans, we also have obtained evidence for a digenic inheritance of a USH1 phenotype in three unrelated families with mutations in CDH23 and PCDH15. Altogether, our data indicate that CDH23 and PCDH15 play an essential long-term role in maintaining the normal organization of the stereocilia bundle.
机译：编码钙粘蛋白23和原钙粘蛋白15的基因突变导致小鼠和人类耳聋。在这里，我们提供的证据表明，这两个钙粘蛋白基因座处的突变可以相互作用，导致两个物种的双基因杂合子发生听力丧失。使用经典的遗传方法，我们在统一的C57BL / 6J背景下生成了Cdh23和Pcdh15突变均为杂合的小鼠。与年龄匹配的单个杂合动物或正常对照组相比，在这些小鼠中检测到明显的听力损失。双基因杂合子的耳蜗中的细胞结构缺陷，包括立体纤毛的变性以及毛细胞和螺旋神经节细胞的基尖损失，与从高频率开始观察到的这些与年龄相关的听力损失一致。在人类中，我们还获得了在三个无关家族中CDH23和PCDH15突变的USH1表型双基因遗传的证据。总而言之，我们的数据表明CDH23和PCDH15在维持立体纤毛束的正常组织方面起着至关重要的长期作用。

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