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探究[具体内容缺失]在[具体内容缺失]和小鼠中的关系。

Probe the relationship between and in and mouse.

作者信息

Lyu Shangru, Doroodchi Atbin, Sheng Yi, DeAndrade Mark P, Yang Youfeng, Liu Yuning, Miller Michael A, Xiao Rui, Li Yuqing

机构信息

Norman Fixel Institute for Neurological Diseases, Department of Neurology, College of Medicine, University of Florida, Gainesville, FL, 32610, USA.

Department of Cell Developmental and Integrative Biology, the University of Alabama at Birmingham, Birmingham, AL, 35294, USA.

出版信息

Exp Results. 2020;1. doi: 10.1017/exp.2020.12. Epub 2020 Mar 31.

Abstract

Restless legs syndrome (RLS) is a neurological disorder characterized by an urge to move and uncomfortable sensations. Genetic studies have identified polymorphisms in up to 19 risk loci, including and Rodents deficient in either homolog show RLS-like phenotypes. However, whether and interact is unclear. Here, with , we observed that the hyperactive egg-laying behavior caused by loss of homolog was counteracted by knockdown of homolog. This was further investigated in mutant mice with or both knocked out. The double knockout mice showed an earlier onset of the motor deficit in the wheel running test but did not have increased sensitivity to the heat stimuli as observed in single KOs. Meis1 protein level was not influenced by deficiency, and transcription was not affected by haploinsufficiency. Our results demonstrate that and do not regulate each other.

摘要

不宁腿综合征(RLS)是一种神经系统疾病,其特征为有移动的冲动和不适感。基因研究已在多达19个风险位点鉴定出多态性,包括[具体基因名称1]和[具体基因名称2]。缺乏任一同源物的啮齿动物表现出类似RLS的表型。然而,[具体基因名称1]和[具体基因名称2]是否相互作用尚不清楚。在此,利用[具体技术或模型名称],我们观察到[具体基因名称1]同源物缺失引起的产卵行为亢进被[具体基因名称2]同源物的敲低所抵消。在[具体基因名称1]或两者均被敲除的突变小鼠中对此进行了进一步研究。双敲除小鼠在转轮试验中运动缺陷的发作更早,但不像单敲除小鼠那样对热刺激的敏感性增加。Meis1蛋白水平不受[具体基因名称1]缺乏的影响,[具体基因名称2]转录也不受[具体基因名称1]单倍剂量不足的影响。我们的结果表明,[具体基因名称1]和[具体基因名称2]不相互调节。

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本文引用的文献

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The Role of BTBD9 in Striatum and Restless Legs Syndrome.
eNeuro. 2019 Oct 10;6(5). doi: 10.1523/ENEURO.0277-19.2019. Print 2019 Sep/Oct.
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