heritability and tissue specificity of expression quantitative trait loci遗传和组织特异性表达数量性状位点.pdfVIP

Heritability and Tissue Specificity of Expression Quantitative Trait Loci 1* 1 1 1 1 1 Enrico Petretto , Jonathan Mangion , Nicholas J. Dickens , Stuart A. Cook , Mande K. Kumaran , Han Lu , Judith Fischer2 2 3,4 3,4 2 1 , Henrike Maatz , Vladimir Kren , Michal Pravenec , Norbert Hubner , Timothy J. Aitman ¨ 1 Medical Research Council Clinical Sciences Centre, Faculty of Medicine, Imperial College, London, United Kingdom, 2 Max-Delbruck-Center for Molecular Medicine, Berlin- Buch, Germany, 3 Institute of Physiology, Czech Academy of Sciences and Centre for Applied Genomics, Prague, Czech Republic, 4 Institute of Biology and Medical Genetics, Charles University, Prague, Czech Republic Variation in gene expression is heritable and has been mapped to the genome in humans and model organisms as expression quantitative trait loci (eQTLs). We applied integrated genome-wide expression profiling and linkage analysis to the regulation of gene expression in fat, kidney, adrenal, and heart tissues using the BXH/HXB panel of rat recombinant inbred strains. Here, we report the influence of heritability and allelic effect of the quantitative trait locus on detection of cis- and trans-acting eQTLs and discuss how these factors operate in a tissue-specific context. We identified several hundred major eQTLs in each tissue and found that cis-acting eQTLs are highly heritable and easier to detect than trans-eQTLs. The proportion of heritable expression traits was similar in all tissues;