Analysis of allelic differential expression in the human genome using allele-specific serial analysis of gene expression tags

Vidal DO; de Souza JES; Pires LC; Masotti C; Salim ACM; Costa MCF; Galante PAF; de Souza SJ; Camargo AA

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Analysis of allelic differential expression in the human genome using allele-specific serial analysis of gene expression tags

机译：使用基因表达标签的等位基因特异性序列分析分析人类基因组中的等位基因差异表达

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Recent reports have demonstrated that a significant proportion of human genes display allelic differential expression (ADE). ADE is associated with phenotypic variability and may contribute to complex genetic diseases. Here, we present a computational analysis of ADE using allele-specific serial analysis of gene expression ( SAGE) tags representing 1295 human genes. We identified 472 genes for which unequal representation (> 3-fold) of allele-specific SAGE tags was observed in at least one SAGE library, suggesting the occurrence of ADE. For 235 out of these 472 genes, the difference in the expression level between both allele-specific SAGE tags was statistically significant ( p < 0.05). Eleven candidate genes were then subjected to experimental validation and ADE was confirmed for 8 out of these 11 genes. Our results suggest that at least 25% of the human genes display ADE and that allele-specific SAGE tags can be efficiently used for the identification of such genes.

机译：最近的报告表明，很大比例的人类基因显示等位基因差异表达（ADE）。 ADE与表型变异性相关，可能会导致复杂的遗传疾病。在这里，我们介绍了使用代表1295个人类基因的基因表达（SAGE）标签的等位基因特异性序列分析进行ADE的计算分析。我们鉴定了472个基因，这些基因在至少一个SAGE文库中观察到等位基因特异性SAGE标签的表达不相等（> 3倍），表明发生了ADE。对于这472个基因中的235个，两个等位基因特异性SAGE标签之间的表达水平差异具有统计学意义（p <0.05）。然后对11个候选基因进行实验验证，并从这11个基因中的8个中确认了ADE。我们的结果表明，至少25％的人类基因显示ADE，并且等位基因特异性SAGE标签可以有效地用于鉴定此类基因。

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《Genome》 |2011年第2期|共8页
作者
Vidal DO; de Souza JES; Pires LC; Masotti C; Salim ACM; Costa MCF; Galante PAF; de Souza SJ; Camargo AA;
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正文语种 eng
中图分类遗传学;
关键词
allelic differential expression; allele-specific SAGE tags; monoallelic expression; SAGE;

机译：等位基因差异表达;等位基因特异性SAGE标签;单等位基因表达;SAGE;

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1. Analysis of allelic differential expression in the human genome using allele-specific serial analysis of gene expression tags [J] . Vidal DO, de Souza JES, Pires LC, Genome . 2011,第2期

机译：使用基因表达标签的等位基因特异性序列分析分析人类基因组中的等位基因差异表达
2. Mechanisms of differential expression of the CYP2A13 7520C and 7520G alleles in human lung: allelic expression analysis for CYP2A13 heterogeneous nuclear RNA, and evidence for the involvement of multiple cis-regulatory single nucleotide polymorphisms. [J] . Wu H, Zhang X, Ling G, Pharmacogenetics and genomics . 2009,第11期

机译：CYP2A13 7520C和7520G等位基因在人肺中差异表达的机制：CYP2A13异质核RNA的等位基因表达分析，并证明涉及多个顺式调控单核苷酸多态性。
3. Computational Analysis of Whole-Genome Differential Allelic Expression Data in Human [J] . James R. Wagner, Bing Ge, Dmitry Pokholok, PLoS Computational Biology . 2010,第7期

机译：人全基因组差异等位基因表达数据的计算分析
4. A PRELIMINARY COMPARISON OF GENE EXPRESSION BETWEEN VEGETATIVE AND FEMALE BUDS OF BLACK SPRUCE (Picea mariana) USING SERIAL ANALYSIS OF GENE EXPRESSION (SAGE) [C] . R.F. Smith, J. Letourneau, S. Sauer Annual Meeting of the Plant Growth Regulation Society of America . 2004

机译：基因表达序列分析（SAGE）序列分析序列分析初期比较黑云杉（PICEA MARIANA）基因表达的初步比较
5. Development of bimodal gene expression analysis and allele-specific competitive PCR for investigation of complex genetic traits, lung cancer risk . [D] . Blomquist, Thomas M. 2010

机译：双峰基因表达分析和等位基因特异性竞争PCR技术的发展，用于研究复杂的遗传特征，患肺癌的风险。
6. Mechanisms of Differential Expression of the CYP2A13 7520C and 7520G Alleles in Human Lung: Allelic Expression Analysis for CYP2A13 Heterogeneous Nuclear RNA and Evidence for the Involvement of Multiple Cis-Regulatory Single Nucleotide Polymorphisms [O] . Hong Wu, Xiuling Zhang, Guoyu Ling, -1

机译：CYP2A13 7520C和7520G等位基因在人肺中差异表达的机制：CYP2A13异构核RNA的等位基因表达分析以及多种顺式调节单核苷酸多态性累及的证据
7. Differential allelic expression in the human genome: a robust approach to identify genetic and epigenetic cis-acting mechanisms regulating gene expression. [O] . David Serre, Scott Gurd, Bing Ge, 2008

机译：人类基因组中的差异等位基因表达：一种稳定的方法，用于鉴定调节基因表达的遗传和表观遗传顺式作用机制。
8. Determination of a Unique Pattern of Gene Expression in Node Positive Breast Cancer Using Serial Analysis of Gene Expression (SAGE) [R] . Brufsky, A. M. 2003

机译：使用基因表达系列分析（saGE）确定淋巴结阳性乳腺癌基因表达的独特模式

Analysis of allelic differential expression in the human genome using allele-specific serial analysis of gene expression tags

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