Deletion of the alpha-synuclein locus in a subpopulation of C57BL/6J inbred mice.
Deletion of the alpha-synuclein locus in a subpopulation of C57BL/6J inbred mice.
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DOI：
10.1186/1471-2202-2-11
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发表时间：
2001
期刊：
影响因子：
2.4
通讯作者：
Schoepfer R
中科院分区：
文献类型：
--
作者：
Specht CG;Schoepfer R
突触前蛋白α-突触核蛋白与一系列神经退行性疾病有关。在这里，我们分析潜在的补偿机制，在α-突触核蛋白无效突变小鼠。此外，研究结果揭示了可能与近交系小鼠品系有关的问题。在转基因小鼠模型中通过cDNA阵列技术的表达谱显示仅α-突触核蛋白的表达水平存在显著差异。这是由用于回交的C57 BL/6 J近交系中α-突触核蛋白基因座的染色体缺失引起的。然而，该缺失仅存在于C57 BL/6 J小鼠的亚群中，即来自哈兰的动物。已知没有其他基因受到该缺失的影响，估计该缺失小于2 cM。我们建议将该菌株命名为C57 BL/6S。C57 BL/6S动物表现正常。它们没有显示β-突触核蛋白或γ-突触核蛋白的上调，排除了代偿机制。此外，synphilin-1的表达不受影响。C57 BL/6S菌株有助于理解α-突触核蛋白的生理功能及其参与突触核蛋白病。此外，这些发现还避免了在转基因模型或近交系的研究过程中可能出现的意外并发症，特别是当与全基因组筛选技术相结合时。
The presynaptic protein α-synuclein is involved in a range of neurodegenerative diseases. Here we analyze potential compensatory mechanisms in α-synuclein null mutant mice. Furthermore, the findings reveal problems that may be associated with inbred mouse strains. Expression profiling by cDNA array technology in a transgenic mouse model revealed striking differences only in the expression level of α-synuclein. This was caused by a chromosomal deletion of the α-synuclein locus in the C57BL/6J inbred strain used for backcrossing. However, the deletion is only present in a subpopulation of C57BL/6J mice, namely animals from Harlan. No other genes are known to be affected by the deletion, which is estimated to be smaller than 2 cM. We propose to name this strain C57BL/6S. C57BL/6S animals appear phenotypically normal. They show no upregulation of β-synuclein or γ-synuclein, excluding a compensatory mechanism. Also, the expression of synphilin-1 was unaffected. The C57BL/6S strain should help in the understanding of the physiological function of α-synuclein and its involvement in synucleinopathies. Also, the findings exemplify unexpected complications that may arise during the study of transgenic models or inbred strains, in particular when combined with genome wide screening techniques.
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影响因子：
14.9
作者：
LAIRD, PW;ZIJDERVELD, A;BERNS, A
通讯作者：
BERNS, A
影响因子：
7.3
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3.5
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