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首页> 外文期刊>Pathobiology: journal of immunopathology, molecular and cellular biology >Investigations into the molecular effects of single nucleotide polymorphism.
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Investigations into the molecular effects of single nucleotide polymorphism.

机译：单核苷酸多态性的分子效应研究。

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OBJECTIVES: DNA sequences are very rich in short repeats and their pattern can be altered by point mutations. We wanted to investigate the effect of single nucleotide polymorphism (SNP) on the pattern of short DNA repeats and its biological consequences. METHODS: Analysis of the pattern of short DNA repeats of the Thy-1 sequence with and without SNP. Searching for DNA-binding factors in any region of significance. RESULTS: Comparing the pattern of short repeats in the Thy-1 gene sequences of Turkish patients with ataxia telangiectasia (AT) with the "wild type" sequence from the DNA database, we identified a missing 8-bp repeat element due to an SNP in position 1271 (intron II) in AT-DNA sequences. Only the mutated sequence had the potential for the formation of a stem loop in DNA or pre-mRNA. In super-shift experiments we found that DNA oligomers covering the area of this SNP formed a complex with proteins amongst which we identified the proliferating cell nuclear antigen (PCNA) protein. CONCLUSION: SNPs have the potential to alter DNA or pre-mRNA conformation. Although no SNP-depeding formation of the DNA-protein complex was evident, future investigations could reveal differential molecular mechanisms of cellular regulation. Copyright 2001 S. Karger AG, Basel
机译：目的：DNA序列短重复序列非常丰富，其模式可以通过点突变来改变。我们想研究单核苷酸多态性（SNP）对短DNA重复序列的模式及其生物学后果的影响。方法：分析有和没有SNP的Thy-1序列的短DNA重复序列。在任何重要区域中寻找DNA结合因子。结果：比较土耳其共济失调毛细血管扩张症（AT）患者Thy-1基因序列中短重复序列与DNA数据库中“野生型”序列的重复序列，我们发现了由于SNP缺失的8 bp重复元件。 AT-DNA序列中的1271位（内含子II）。只有突变的序列才有可能在DNA或pre-mRNA中形成茎环。在超移位实验中，我们发现覆盖该SNP区域的DNA寡聚物与蛋白质形成了复合物，其中我们鉴定出了增殖性细胞核抗原（PCNA）蛋白。结论：SNP具有改变DNA或前mRNA构象的潜力。尽管没有明显的DNA-蛋白质复合物的单核苷酸多态性形成，但未来的研究可能揭示细胞调节的不同分子机制。版权所有2001 S. Karger AG，巴塞尔

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