Genetics. Published Articles Ahead of Print: December 18, 2006, Copyright © 2006
doi:10.1534/genetics.106.064972


A more recent version of this article appeared on March 1, 2007.


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Global eQTL Mapping Reveals the Complex Genetic Architecture of Transcript Level Variation in Arabidopsis

1 University of California-Davis
2 Purdue University

* To whom correspondence should be addressed. E-mail: dastclair{at}ucdavis.edu.

Submitted on August 17, 2006
Revised on October 2, 2006
Accepted on 1 December 2006


Abstract

The genetic architecture of transcript level variation is largely unknown. The genetic determinants of transcript level variation were characterized in a recombinant inbred line (RIL) population (n = 211) of Arabidopsis thaliana using whole genome microarray analysis and expression QTL (eQTL) mapping of transcript levels as expression traits (e-traits). Genetic control of transcription was highly complex: one-third of the quantitatively controlled transcripts/e-traits were regulated by cis-eQTLs and many trans-eQTLs mapped to "hotspots" that regulated hundreds to thousands of e-traits. Several thousand eQTLs of large phenotypic effect were detected, but almost all (93%) of the 36,871 eQTLs were associated with small phenotypic effects (R2 < 0.3). Many transcripts/e-traits were controlled by multiple eQTLs with opposite allelic effects and exhibited higher heritability in the RILs than their parents, suggesting non-additive genetic variation. To our knowledge this is the first large-scale global eQTL study in a relatively large plant mapping population. It reveals that the genetic control of transcript level is highly variable and multifaceted, and that this complexity may be a general characteristic of eukaryotes.

Key Words: Arabidopsis, expression QTL (eQTL), functional genomics, quantitative genetics, recombinant inbred population




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