| 张敏权力张霆△.PAX3 基因及其蛋白的生物信息学分析[J].现代生物医学进展英文版,2011,11(1):36-40. |
| PAX3 基因及其蛋白的生物信息学分析 |
| Bioinformatic analysis of PAX3 gene and PAX3 protein |
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| DOI： |
| 中文关键词: PAX3 基因 生物信息学 转录因子 神经管畸形 |
| 英文关键词: PAX3 gene Bioinformatic Analysis Transcription Factor Neural Tube Defects |
| 基金项目:首都医学发展科研基金资助项目（2005-2048）, 国家自然科学基金资助项目（20905051） |
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| 中文摘要: |
| 目的：对PAX3 基因和PAX3 蛋白进行生物信息学分析，更多的了解该基因的相关信息，为进一步研究PAX3 与神经管畸形
的相关性研究提供基础。方法：运用生物信息学方法对PAX3 基因的基因结构、单核苷酸多态性位点（SNP）、PAX3 基因与其他基
因的相互作用网络、PAX3 蛋白结构域、蛋白二级结构、蛋白间相互作用网络、以及PAX3 蛋白所调控和影响的靶基因进行分析。
结果：PAX3 基因有9 中可变剪切形式，编码区存在14 个SNP 位点，其中错意突变13 个，移码突变1 个。PAX3 蛋白由479 个
氨基酸组成，分子量52968Da，PAX3 蛋白可能调控和影响151 个靶基因的转录和表达，与PAX3 基因存在相互作用的基因和与
PAX3 蛋白存在相互作用的蛋白多数与发育相关。结论：通过对PAX3 基因和PAX3 蛋白的生物信息学分析获得了其相应的分子
生物学特征，为进一步研究提供基础。 |
| 英文摘要: |
| Objective: To obtain more information about PAX3 gene and PAX3 protein. Methods: Bioinformatics approach were
applied to analyze PAX3 gene structure, single nucleotide polymorphisms, target genes regulated by PAX3 protein, gene interaction network,
protein secondary structure, protein interaction network, multiple sequence alignment of PAX3 gene family, multiple sequence
alignment of PAX3 protein and its homologous sequences. Results: There are nine transcripts in PAX3 gene and 14 SNPs were found in
coding region, including 13 missense and 1 frame shift. 151 target genes of PAX3 regulation factor were found and the interaction network
between PAX3 and other genes were get. PAX3 protein has two domains, Homeobox domain and Paired box domain. During the 9
members of PAX3 gene family, PAX3 and PAX7 have the closest relationship. Conclusion: We obtained more biological information
about PAX3 gene and PAX3 protein by bioinformatic analysis, which is very useful for further research. |
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