Association mapping across numerous traits reveals patterns of functional variation in maize.

Phenotypic variation in natural populations results from a combination of genetic effects, environmental effects, and gene-by-environment interactions. Despite the vast amount of genomic data becoming available, many pressing questions remain about the nature of genetic mutations that underlie funct...

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Main Authors: Jason G Wallace, Peter J Bradbury, Nengyi Zhang, Yves Gibon, Mark Stitt, Edward S Buckler
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2014-12-01
Series:PLoS Genetics
Online Access:http://europepmc.org/articles/PMC4256217?pdf=render
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author Jason G Wallace
Peter J Bradbury
Nengyi Zhang
Yves Gibon
Mark Stitt
Edward S Buckler
author_facet Jason G Wallace
Peter J Bradbury
Nengyi Zhang
Yves Gibon
Mark Stitt
Edward S Buckler
author_sort Jason G Wallace
collection DOAJ
description Phenotypic variation in natural populations results from a combination of genetic effects, environmental effects, and gene-by-environment interactions. Despite the vast amount of genomic data becoming available, many pressing questions remain about the nature of genetic mutations that underlie functional variation. We present the results of combining genome-wide association analysis of 41 different phenotypes in ∼ 5,000 inbred maize lines to analyze patterns of high-resolution genetic association among of 28.9 million single-nucleotide polymorphisms (SNPs) and ∼ 800,000 copy-number variants (CNVs). We show that genic and intergenic regions have opposite patterns of enrichment, minor allele frequencies, and effect sizes, implying tradeoffs among the probability that a given polymorphism will have an effect, the detectable size of that effect, and its frequency in the population. We also find that genes tagged by GWAS are enriched for regulatory functions and are ∼ 50% more likely to have a paralog than expected by chance, indicating that gene regulation and gene duplication are strong drivers of phenotypic variation. These results will likely apply to many other organisms, especially ones with large and complex genomes like maize.
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spelling doaj.art-fcc22df3ecb04079a07a775dcb6824802022-12-22T02:36:57ZengPublic Library of Science (PLoS)PLoS Genetics1553-73901553-74042014-12-011012e100484510.1371/journal.pgen.1004845Association mapping across numerous traits reveals patterns of functional variation in maize.Jason G WallacePeter J BradburyNengyi ZhangYves GibonMark StittEdward S BucklerPhenotypic variation in natural populations results from a combination of genetic effects, environmental effects, and gene-by-environment interactions. Despite the vast amount of genomic data becoming available, many pressing questions remain about the nature of genetic mutations that underlie functional variation. We present the results of combining genome-wide association analysis of 41 different phenotypes in ∼ 5,000 inbred maize lines to analyze patterns of high-resolution genetic association among of 28.9 million single-nucleotide polymorphisms (SNPs) and ∼ 800,000 copy-number variants (CNVs). We show that genic and intergenic regions have opposite patterns of enrichment, minor allele frequencies, and effect sizes, implying tradeoffs among the probability that a given polymorphism will have an effect, the detectable size of that effect, and its frequency in the population. We also find that genes tagged by GWAS are enriched for regulatory functions and are ∼ 50% more likely to have a paralog than expected by chance, indicating that gene regulation and gene duplication are strong drivers of phenotypic variation. These results will likely apply to many other organisms, especially ones with large and complex genomes like maize.http://europepmc.org/articles/PMC4256217?pdf=render
spellingShingle Jason G Wallace
Peter J Bradbury
Nengyi Zhang
Yves Gibon
Mark Stitt
Edward S Buckler
Association mapping across numerous traits reveals patterns of functional variation in maize.
PLoS Genetics
title Association mapping across numerous traits reveals patterns of functional variation in maize.
title_full Association mapping across numerous traits reveals patterns of functional variation in maize.
title_fullStr Association mapping across numerous traits reveals patterns of functional variation in maize.
title_full_unstemmed Association mapping across numerous traits reveals patterns of functional variation in maize.
title_short Association mapping across numerous traits reveals patterns of functional variation in maize.
title_sort association mapping across numerous traits reveals patterns of functional variation in maize
url http://europepmc.org/articles/PMC4256217?pdf=render
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