Generation and characterization of Sca2 (ataxin-2) knockout mice
Generation and characterization of Sca2 (ataxin-2) knockout mice
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DOI：
10.1016/j.bbrc.2005.10.186
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发表时间：
2006-01-06
影响因子：
3.1
通讯作者：
Pulst, SM
中科院分区：
文献类型：
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作者：
Kiehl, TR;Nechiporuk, A;Pulst, SM
共济失调蛋白2（Ataxin-2）是脊髓小脑性共济失调2型（SCA 2）基因的产物，是一种功能未知的蛋白质，在胚胎和成体组织中大量表达。它与A2 BP 1/Fox-1（一种具有RNA识别基序的蛋白质）的相互作用表明共济失调蛋白-2参与了mRNA的翻译或转运。为了研究体内共济失调蛋白-2功能的影响，我们产生了共济失调蛋白-2缺陷小鼠品系。共济失调蛋白-2缺陷小鼠存活。对杂合子小鼠交配产生的窝仔进行基因型分析，结果显示分离畸变，Sca（-/-）雌性小鼠的出生率显著降低。对存活的Sca 2敲除小鼠进行的详细肉眼和显微镜分析显示无重大组织学异常。在富含脂肪的饮食中，ataxin-2缺乏的动物体重增加。结果表明，ataxin-2虽然广泛表达，但在小鼠的发育或成年存活期间不是必需的，但会导致成年肥胖。(c)2005年爱思唯尔公司All rights reserved.
Ataxin-2, the gene product ofthe Spinocerebellar Ataxia Type 2 (SCA2) gene, is a protein of unknown function with abundant expression in embryonic and adult tissues. Its interaction with A2BP1/Fox-1, a protein with an RNA recognition motif, suggests involvement of ataxin-2 in mRNA translation or transport. To study the effects of in vivo ataxin-2 function, we generated an ataxin-2 deficient mouse strain. Ataxin-2 deficient mice were viable. Genotypic analysis of litters from mating of heterozygous mice showed segregation distortion with a significant reduction in the birth of Sca(-/-) females. Detailed macroscopic and microscopic analysis of surviving nullizygous Sca2 knockout mice showed no major histological abnormalities. On a fat-enriched diet, ataxin-2 deficient animals had increased weight gain. Out-results demonstrate that ataxin-2, although widely expressed, is not essential in development or during adult Survival in the mouse, but leads to adult-onset obesity. (c) 2005 Elsevier Inc. All rights reserved.