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

Hum Genet. 2003 Jul;113(2):149-53. doi: 10.1007/s00439-003-0956-y. Epub 2003 May 1.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Brain / metabolism*
  • DNA, Complementary / analysis
  • Gene Expression Regulation*
  • Genetic Markers / genetics*
  • Genetic Variation*
  • Heterozygote
  • Humans
  • Phenotype
  • RNA, Messenger / analysis
  • Reverse Transcriptase Polymerase Chain Reaction


  • DNA, Complementary
  • Genetic Markers
  • RNA, Messenger