Cis-acting variation in the expression of a high proportion of genes in human brain

被引:184
作者
Bray, NJ [1 ]
Buckland, PR [1 ]
Owen, MJ [1 ]
O'Donovan, MC [1 ]
机构
[1] Univ Wales Coll Med, Dept Psychol Med, Cardiff CF14 4XN, S Glam, Wales
基金
英国医学研究理事会;
关键词
D O I
10.1007/s00439-003-0956-y
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Much of the genetic component of human phenotypic diversity, including susceptibility to disease, is proposed to be the result of cis-acting influences on gene expression. If this hypothesis is correct, it implies that cis-acting regulatory variation is a common phenomenon. However, direct evidence in support of this view is scarce. We have applied highly quantitative measures of allele-specific expression in order to screen an average of 19 informative subjects (range 8-26) for the presence of common cis-acting influences on the expression of 15 genes by using RNA derived from human brain. We found that, in seven of the 15 assayed genes, at least one individual exhibited relative differences in allelic expression of 20% or more and, in one gene (DTNBP1), allelic expression differences exceeded 50%. These results suggest that cis-acting variation in gene expression commonly occurs in native tissue and hence provide empirical support for the hypothesis that this is potentially an important mechanism underlying human phenotypic diversity.
引用
收藏
页码:149 / 153
页数:5
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