Genetic effects on chromatin accessibility reveal the molecular mechanisms of complex traits in maize

Cis-regulatory elements (CREs) are critical for modulating gene expression and phenotypic diversity in maize. While genome-wide association study (GWAS) hits and expression quantitative trait loci (eQTLs) are often enriched in CREs, their molecular mechanisms remain poorly understood. Characterizing CREs within accessible chromatin regions (ACRs) offers a powerful approach to link noncoding variants to chromatin structure alterations and phenotypic variation. Here, we generated ATAC-seq profiles from seedling leaves of 214 maize inbred lines, identifying 82 174 consensus ACRs. Notably, 39.55% of these ACRs exhibited significant population-wide chromatin accessibility variation. By mapping chromatin accessibility quantitative trait loci (caQTLs), we discovered 27 004 loci, including 1398 predicted to disrupt transcription factor (TF)-binding sites. Integration with multi-omics data revealed 7405 caACR-target gene pairs and linked 56 caACRs to GWAS signals for 51 agronomic traits, with significant enrichment in flowering-related pathways. Functional candidates such as ZmZIM30 - putatively regulated by caACRs - emerged as key regulators of flowering time. At the fad7 locus associated with linolenic acid content, allelic variants overlapping a caQTL showed differential chromatin accessibility. Our study provides a high-resolution cis-elements of maize leaves, deciphers the genetic basis of chromatin accessibility variation, and bridges noncoding caQTLs to molecular mechanisms underlying GWAS hits.

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Publication Details

Journal
The Plant Journal
Published
2025-08-01
DOI
https://doi.org/10.1111/tpj.70437
Citations
1
Primary Topic
Genetic Mapping and Diversity in Plants and Animals
Type
article
Field-Weighted Citation Impact
1.82

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article

Genetic effects on chromatin accessibility reveal the molecular mechanisms of complex traits in maize

Xiaoyu Tu, Silin Zhong, Tao Zhu, H.W. Ngan et al.
1 citations
The Plant Journal
Genetic Mapping and Diversity in Plants and Animals
1.82
article

Genetic effects on chromatin accessibility reveal the molecular mechanisms of complex traits in maize

Xiaoyu Tu, Silin Zhong, Tao Zhu, H.W. Ngan, Jianbing Yan, Yongli Zhu, Weilun Liu, Dijun Chen, Yingjie Xiao, Zhuo Lin, Wenqiang Li, Ning Yang, Kang Gao
article en
1 citations

Abstract

Cis-regulatory elements (CREs) are critical for modulating gene expression and phenotypic diversity in maize. While genome-wide association study (GWAS) hits and expression quantitative trait loci (eQTLs) are often enriched in CREs, their molecular mechanisms remain poorly understood. Characterizing CREs within accessible chromatin regions (ACRs) offers a powerful approach to link noncoding variants to chromatin structure alterations and phenotypic variation. Here, we generated ATAC-seq profiles from seedling leaves of 214 maize inbred lines, identifying 82 174 consensus ACRs. Notably, 39.55% of these ACRs exhibited significant population-wide chromatin accessibility variation. By mapping chromatin accessibility quantitative trait loci (caQTLs), we discovered 27 004 loci, including 1398 predicted to disrupt transcription factor (TF)-binding sites. Integration with multi-omics data revealed 7405 caACR-target gene pairs and linked 56 caACRs to GWAS signals for 51 agronomic traits, with significant enrichment in flowering-related pathways. Functional candidates such as ZmZIM30 - putatively regulated by caACRs - emerged as key regulators of flowering time. At the fad7 locus associated with linolenic acid content, allelic variants overlapping a caQTL showed differential chromatin accessibility. Our study provides a high-resolution cis-elements of maize leaves, deciphers the genetic basis of chromatin accessibility variation, and bridges noncoding caQTLs to molecular mechanisms underlying GWAS hits.

The Plant JournalVol. 123(4)
Chinese University of Hong Kong (HK), Huazhong Agricultural University (CN), Shanghai Zhangjiang Laboratory (CN), Nanjing University (CN)
National Natural Science Foundation of China, National Key Research and Development Program of China
Openalex Percentile: Top 13%
Genetic Mapping and Diversity in Plants and Animals
1.82
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