Allelic variation in gene expression is common in the human genome
Allelic variation in gene expression is common in the human genome
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DOI：
10.1101/gr.1006603
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发表时间：
2003-08-01
期刊：
影响因子：
7
通讯作者：
Lee, MP
中科院分区：
文献类型：
--
作者：
Lo, HS;Wang, ZN;Lee, MP
基因序列和表达的变异是人类变异性的基础。尽管已知x染色体失活和基因组印记导致的差异等位基因表达的生物学作用，但缺乏对人类等位基因表达的大规模分析。我们使用Affymetrix HuSNP寡核苷酸阵列检测了1063个转录单核苷酸多态性（SNPs）的等位基因特异性基因表达。602个杂合基因在7个个体的肾脏或肝脏组织中表达，其中326个（54%）至少在一个个体中优先表达一个等位基因，其中170个等位基因在两个等位基因之间的差异大于4倍。通过实时定量PCR实验证实了等位基因的变异。已知这170个基因中的一些是印迹基因，如SNRPN， IPW， HTR2A和PEG3。大多数差异表达基因不在已知的印迹结构域中，而是分布在整个基因组中。我们的研究表明，等位基因之间的基因表达变异是常见的，这种变异可能有助于人类的变异性。
Variations in gene sequence and expression underlie much Of human variability. Despite the known biological roles of differential allelic gene expression resulting from X-chromosome inactivation and genomic imprinting, a large-scale analysis of allelic gene expression in human is lacking. We examined allele-specific gene expression of 1063 transcribed single-nucleotide polymorphisms (SNPs) by using Affymetrix HuSNP oligo arrays. Among the 602 genes that were heterozygous and expressed in kidney or liver tissues from seven individuals, 326 (54%) showed preferential expression of one allele in at least one individual, and 170 of those showed greater than fourfold difference between the two alleles. The allelic variation has been confirmed by real-time quantitative PCR experiments. Some of these 170 genes are known to be imprinted, such as SNRPN, IPW, HTR2A, and PEG3. Most of the differentially expressed genes are not in known imprinting domains but instead are distributed throughout the genome. Our Studies demonstrate that variation of gene expression between alleles is common, and this variation may contribute to human variability.