Genetics of Quantitative Variation in Human Gene Expression
This extract was created in the absence of an abstract.
Excerpt
The extent of variation among individuals at the DNAsequence level has been well characterized. The goal ofmany genetic studies is to determine the consequences ofthese sequence variants, for both normal and disease phenotypes. We have extended the study of genome variationfrom the sequence to mRNA transcript level, with the goalof understanding natural variation in gene expression inhumans. We began by measuring the quantitative differences in expression levels of genes among normal individuals and determining whether there is an inherited component to this variation. We found a set of genes whoseexpression levels are highly variable in lymphoblastoidcells prepared from white blood cells of normal individuals. For these genes, we observed that genetically relatedindividuals tend to have more similar transcript levels thanunrelated individuals. This suggests that there is a geneticcomponent in gene expression phenotype. Next, we areidentifying the sequence differences that control variationin gene expression phenotype in a cis- or trans-acting manner. Like other quantitative traits, baseline variation ingene expression levels is likely to be regulated by a varietyof genetic determinants, as well as environmental effects...
