Comprehensive analysis of Arabidopsis expression level polymorphisms with simple inheritance

Abstract In Arabidopsis thaliana, gene expression level polymorphisms (ELPs) between natural accessions that exhibit simple, single locus inheritance are promising quantitative trait locus (QTL) candidates to explain phenotypic variability. It is assumed that such ELPs overwhelmingly represent regul...

Full description

Saved in:
Bibliographic Details
Main Authors: Stephanie Plantegenet, Johann Weber, Darlene R Goldstein, Georg Zeller, Cindy Nussbaumer, Jérôme Thomas, Detlef Weigel, Keith Harshman, Christian S Hardtke
Format: Article
Language:English
Published: Springer Nature 2009-02-01
Series:Molecular Systems Biology
Subjects:
Online Access:https://doi.org/10.1038/msb.2008.79
Tags: Add Tag
No Tags, Be the first to tag this record!
_version_ 1849225765518835712
author Stephanie Plantegenet
Johann Weber
Darlene R Goldstein
Georg Zeller
Cindy Nussbaumer
Jérôme Thomas
Detlef Weigel
Keith Harshman
Christian S Hardtke
author_facet Stephanie Plantegenet
Johann Weber
Darlene R Goldstein
Georg Zeller
Cindy Nussbaumer
Jérôme Thomas
Detlef Weigel
Keith Harshman
Christian S Hardtke
author_sort Stephanie Plantegenet
collection DOAJ
description Abstract In Arabidopsis thaliana, gene expression level polymorphisms (ELPs) between natural accessions that exhibit simple, single locus inheritance are promising quantitative trait locus (QTL) candidates to explain phenotypic variability. It is assumed that such ELPs overwhelmingly represent regulatory element polymorphisms. However, comprehensive genome‐wide analyses linking expression level, regulatory sequence and gene structure variation are missing, preventing definite verification of this assumption. Here, we analyzed ELPs observed between the Eil‐0 and Lc‐0 accessions. Compared with non‐variable controls, 5′ regulatory sequence variation in the corresponding genes is indeed increased. However, ∼42% of all the ELP genes also carry major transcription unit deletions in one parent as revealed by genome tiling arrays, representing a >4‐fold enrichment over controls. Within the subset of ELPs with simple inheritance, this proportion is even higher and deletions are generally more severe. Similar results were obtained from analyses of the Bay‐0 and Sha accessions, using alternative technical approaches. Collectively, our results suggest that drastic structural changes are a major cause for ELPs with simple inheritance, corroborating experimentally observed indel preponderance in cloned Arabidopsis QTL.
format Article
id doaj-art-5eedb722272f4eecb801337b17db36f1
institution Kabale University
issn 1744-4292
language English
publishDate 2009-02-01
publisher Springer Nature
record_format Article
series Molecular Systems Biology
spelling doaj-art-5eedb722272f4eecb801337b17db36f12025-08-24T11:59:30ZengSpringer NatureMolecular Systems Biology1744-42922009-02-015111010.1038/msb.2008.79Comprehensive analysis of Arabidopsis expression level polymorphisms with simple inheritanceStephanie Plantegenet0Johann Weber1Darlene R Goldstein2Georg Zeller3Cindy Nussbaumer4Jérôme Thomas5Detlef Weigel6Keith Harshman7Christian S Hardtke8Department of Plant Molecular Biology, University of Lausanne, Biophore BuildingLausanne DNA Array Facility, Center for Integrative Genomics, University of Lausanne, Genopode BuildingÉcole Polytechnique Fédérale de Lausanne (EPFL), Institut de mathématiques (IMA), Bâtiment MAFriedrich Miescher Laboratory of the Max Planck SocietyDepartment of Plant Molecular Biology, University of Lausanne, Biophore BuildingLausanne DNA Array Facility, Center for Integrative Genomics, University of Lausanne, Genopode BuildingMax Planck Institute for Developmental Biology, Department of Molecular BiologyLausanne DNA Array Facility, Center for Integrative Genomics, University of Lausanne, Genopode BuildingDepartment of Plant Molecular Biology, University of Lausanne, Biophore BuildingAbstract In Arabidopsis thaliana, gene expression level polymorphisms (ELPs) between natural accessions that exhibit simple, single locus inheritance are promising quantitative trait locus (QTL) candidates to explain phenotypic variability. It is assumed that such ELPs overwhelmingly represent regulatory element polymorphisms. However, comprehensive genome‐wide analyses linking expression level, regulatory sequence and gene structure variation are missing, preventing definite verification of this assumption. Here, we analyzed ELPs observed between the Eil‐0 and Lc‐0 accessions. Compared with non‐variable controls, 5′ regulatory sequence variation in the corresponding genes is indeed increased. However, ∼42% of all the ELP genes also carry major transcription unit deletions in one parent as revealed by genome tiling arrays, representing a >4‐fold enrichment over controls. Within the subset of ELPs with simple inheritance, this proportion is even higher and deletions are generally more severe. Similar results were obtained from analyses of the Bay‐0 and Sha accessions, using alternative technical approaches. Collectively, our results suggest that drastic structural changes are a major cause for ELPs with simple inheritance, corroborating experimentally observed indel preponderance in cloned Arabidopsis QTL.https://doi.org/10.1038/msb.2008.79ArabidopsiseQTLexpression level polymorphismheritability of expressionQTLstructural gene variation
spellingShingle Stephanie Plantegenet
Johann Weber
Darlene R Goldstein
Georg Zeller
Cindy Nussbaumer
Jérôme Thomas
Detlef Weigel
Keith Harshman
Christian S Hardtke
Comprehensive analysis of Arabidopsis expression level polymorphisms with simple inheritance
Molecular Systems Biology
Arabidopsis
eQTL
expression level polymorphism
heritability of expression
QTL
structural gene variation
title Comprehensive analysis of Arabidopsis expression level polymorphisms with simple inheritance
title_full Comprehensive analysis of Arabidopsis expression level polymorphisms with simple inheritance
title_fullStr Comprehensive analysis of Arabidopsis expression level polymorphisms with simple inheritance
title_full_unstemmed Comprehensive analysis of Arabidopsis expression level polymorphisms with simple inheritance
title_short Comprehensive analysis of Arabidopsis expression level polymorphisms with simple inheritance
title_sort comprehensive analysis of arabidopsis expression level polymorphisms with simple inheritance
topic Arabidopsis
eQTL
expression level polymorphism
heritability of expression
QTL
structural gene variation
url https://doi.org/10.1038/msb.2008.79
work_keys_str_mv AT stephanieplantegenet comprehensiveanalysisofarabidopsisexpressionlevelpolymorphismswithsimpleinheritance
AT johannweber comprehensiveanalysisofarabidopsisexpressionlevelpolymorphismswithsimpleinheritance
AT darlenergoldstein comprehensiveanalysisofarabidopsisexpressionlevelpolymorphismswithsimpleinheritance
AT georgzeller comprehensiveanalysisofarabidopsisexpressionlevelpolymorphismswithsimpleinheritance
AT cindynussbaumer comprehensiveanalysisofarabidopsisexpressionlevelpolymorphismswithsimpleinheritance
AT jeromethomas comprehensiveanalysisofarabidopsisexpressionlevelpolymorphismswithsimpleinheritance
AT detlefweigel comprehensiveanalysisofarabidopsisexpressionlevelpolymorphismswithsimpleinheritance
AT keithharshman comprehensiveanalysisofarabidopsisexpressionlevelpolymorphismswithsimpleinheritance
AT christianshardtke comprehensiveanalysisofarabidopsisexpressionlevelpolymorphismswithsimpleinheritance