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首页> 外文期刊>Genomics >Identification of a missense mutation in the bovine ATP2A1 gene in congenital pseudomyotonia of Chianina cattle: an animal model of human Brody disease.
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Identification of a missense mutation in the bovine ATP2A1 gene in congenital pseudomyotonia of Chianina cattle: an animal model of human Brody disease.

机译：在中国先知性先天性假性肌强直性肌性牛中的牛ATP2A1基因的错义突变的鉴定：人类布罗迪病的动物模型。

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Congenital pseudomyotonia in Chianina cattle is a muscle function disorder very similar to that of Brody disease in humans. Mutations in the human ATP2A1 gene, encoding SERCA1, cause Brody myopathy. The analysis of the collected Chianina pedigree data suggested monogenic autosomal recessive inheritance and revealed that all 17 affected individuals traced back to a single founder. A deficiency of SERCA1 function in skeletal muscle of pseudomyotonia affected Chianina cattle was observed as SERCA1 activity in affected animals was decreased by about 70%. Linkage analysis showed that the mutation was located in the ATP2A1 gene region on BTA25 and subsequent mutation analysis of the ATP2A1 exons revealed a perfectly associated missense mutation in exon 6 (c.491G>A) leading to a p.Arg164His substitution. Arg164 represents a functionally important and strongly conserved residue of SERCA1. This study provides a suitable large animal model for human Brody disease.
机译：基安纳纳牛的先天性假性肌强直是一种肌肉功能障碍，与人类布罗迪病非常相似。编码SERCA1的人类ATP2A1基因突变导致布罗迪肌病。对所收集的Chianina系谱数据的分析表明，是单基因常染色体隐性遗传，并揭示了所有17个受影响的个体都可以追溯到一个创始人。观察到假肌强直症影响的基亚纳纳牛的骨骼肌中SERCA1功能不足，因为患病动物的SERCA1活性降低了约70％。连锁分析表明，该突变位于BTA25上的ATP2A1基因区域，随后对ATP2A1外显子的突变分析显示，外显子6中存在完全相关的错义突变（c.491G> A），导致p.Arg164His取代。 Arg164代表功能上重要且高度保守的SERCA1残基。这项研究为人类布罗迪病提供了合适的大型动物模型。

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