scholarly journals Comprehensive mechanistic characterization of mQTLs in an Asian population

Author(s):  
Sijia Wang ◽  
Qianqian Peng ◽  
Xinxuan Liu ◽  
Han Jing ◽  
Wenran Li ◽  
...  

Abstract Identification and characterization of methylation quantitative trait loci (mQTLs) can help elucidate the role of DNA methylation changes as a potential mediator of genetic risk loci. However, mQTLs remain poorly characterized: they have not yet been mapped in the largest ethnic populations, their cell-type specific nature has not been resolved, and the proportion of mQTLs attributed to different molecular mechanisms is unknown. Here we perform the first mQTL-mapping study in a large Han Chinese population, demonstrating that over 80% of mQTLs are shared with those identified in White Caucasians. We further estimate that over 90% of mQTLs are shared between different blood cell-lineages. mQTLs demonstrate a strong enrichment for variants influencing chromatin accessibility. We identify a number of GWAS-linked transcription factor trans-mQTL hotspots associated with eosinophilia, ulcerative colitis and body mass index, and a subset of trans-mQTLs within the NFKB-pathway that may mediate the risk of obesity. In summary, this study significantly expands our understanding of mQTLs and their potential role in mediating disease risk, whilst also contributing the first mQTL-database in an Asian population.

2021 ◽  
Author(s):  
Peihong Wang ◽  
Sai Wang ◽  
Yan Wu ◽  
Wenhan Nie ◽  
Ayizekeranmu Yiming ◽  
...  

Abstract BackgroundThe emerging role of circular RNAs (circRNAs) in various biological processes have advanced our knowledge of transcriptional and post-transcriptional gene regulation. The number and expression of plant circRNAs vary with species and treatments. However, the expression profile and the potential role of circRNAs during plant response to pathogen invasion are still elusive. ResultsIn this study, we identified 3517 circRNAs from PXO99A-infected rice leaves using the ribosomal RNA (rRNA) depleted RNA-Sequencing technique coupled with the CIRI2 and CIRCexplorer2 pipeline. Among them, 2994 (85.13%) circRNAs arised from the exons of their parent genes, 1214 circRNAs were previously unknown and 276 circRNAs exhibited differential expression profiles upon PXO99A infection over time. In addition, 31 differentially expressed circRNAs (DEcircRNAs) were predicted as the corresponding 121 miRNAs sponges. Functional analysis of both host genes and target mRNAs suggested that these identified circRNAs might play an important role in reprogramming rice responses to PXO99A invasion, mainly by mediating photorespiration, chloroplast, peroxisome and diterpenoid biosynthesis associated pathways.ConclusionThese results inferred a potential functional role of circRNAs in the regulation of rice immunity and provide novel clues for revealing the molecular mechanisms of rice-PXO99A interaction.


2021 ◽  
Author(s):  
Peihong Wang ◽  
Sai Wang ◽  
Yan Wu ◽  
Wenhan Nie ◽  
Ayizekeranmu Yiming ◽  
...  

Emerging role of circular RNAs (circRNAs) in various biological processes have advanced our knowledge of transcriptional and post-transcriptional gene regulation. To date, no research has been conducted to explore their roles in the rice- Xanthomonas oryzae pv. oryzae (Xoo) interaction. Therefore, we identified 3517 circRNAs from the highly virulent Xoo strain PXO99A-infected rice leaves using the ribosomal RNA (rRNA) depleted RNA-sequencing technique coupled with the CIRI2 and CIRCexplorer2 pipeline. Characterization analyses showed that these circRNAs were distributed across the whole genome of rice, and most circRNAs arised from exons (85.13 %), ranged from 200 bp to 1000 bp and were with a non-canonical GT/AG (including CT/AC equivalent) splicing signal. Functional annotation and enrichment analysis of the host genes that produced the DEcircRNAs suggested that these identified circRNAs might play an important role in reprogramming rice responses to PXO99A invasion, mainly by mediating photorespiration, chloroplast, peroxisome and diterpenoid biosynthesis. Moreover, 31 differentially expressed circRNAs (DEcircRNAs) were predicted to act as miRNA decoys in rice. The expression profile of 4 DEcircRNAs were validated by RT-qPCR with divergent primers, and the back-splicing sites of seven DEcircRNAs were verified by PCR analysis and Sanger sequencing. Collectively, these results inferred a potential functional role of circRNAs in the regulation of rice immunity and provide novel clues for revealing the molecular mechanisms of rice-PXO99A interaction.


2021 ◽  
Vol 12 (1) ◽  
Author(s):  
Abdul Azeez ◽  
Yiru Chen Zhao ◽  
Rajesh Kumar Singh ◽  
Yordan S. Yordanov ◽  
Madhumita Dash ◽  
...  

AbstractBud-break is an economically and environmentally important process in trees and shrubs from boreal and temperate latitudes, but its molecular mechanisms are poorly understood. Here, we show that two previously reported transcription factors, EARLY BUD BREAK 1 (EBB1) and SHORT VEGETATIVE PHASE-Like (SVL) directly interact to control bud-break. EBB1 is a positive regulator of bud-break, whereas SVL is a negative regulator of bud-break. EBB1 directly and negatively regulates SVL expression. We further report the identification and characterization of the EBB3 gene. EBB3 is a temperature-responsive, epigenetically-regulated, positive regulator of bud-break that provides a direct link to activation of the cell cycle during bud-break. EBB3 is an AP2/ERF transcription factor that positively and directly regulates CYCLIND3.1 gene. Our results reveal the architecture of a putative regulatory module that links temperature-mediated control of bud-break with activation of cell cycle.


PLoS Genetics ◽  
2005 ◽  
Vol preprint (2007) ◽  
pp. e136
Author(s):  
Hualin Xi ◽  
Hennady P Shulha ◽  
Jane M Lin ◽  
Teresa R Vales ◽  
Yutao Fu ◽  
...  

2019 ◽  
Author(s):  
Wei Fang ◽  
Yi Wen ◽  
Xiangyun Wei

AbstractTissue-specific or cell type-specific transcription of protein-coding genes is controlled by both trans-regulatory elements (TREs) and cis-regulatory elements (CREs). However, it is challenging to identify TREs and CREs, which are unknown for most genes. Here, we describe a protocol for identifying two types of transcription-activating CREs—core promoters and enhancers—of zebrafish photoreceptor type-specific genes. This protocol is composed of three phases: bioinformatic prediction, experimental validation, and characterization of the CREs. To better illustrate the principles and logic of this protocol, we exemplify it with the discovery of the core promoter and enhancer of the mpp5b apical polarity gene (also known as ponli), whose red, green, and blue (RGB) cone-specific transcription requires its enhancer, a member of the rainbow enhancer family. While exemplified with an RGB cone-specific gene, this protocol is general and can be used to identify the core promoters and enhancers of other protein-coding genes.


2018 ◽  
Author(s):  
Jürgen Jänes ◽  
Yan Dong ◽  
Michael Schoof ◽  
Jacques Serizay ◽  
Alex Appert ◽  
...  

AbstractAn essential step for understanding the transcriptional circuits that control development and physiology is the global identification and characterization of regulatory elements. Here we present the first map of regulatory elements across the development and ageing of an animal, identifying 42,245 elements accessible in at least one C. elegans stage. Based on nuclear transcription profiles, we define 15,714 protein-coding promoters and 19,231 putative enhancers, and find that both types of element can drive orientation-independent transcription. Additionally, hundreds of promoters produce transcripts antisense to protein coding genes, suggesting involvement in a widespread regulatory mechanism. We find that the accessibility of most elements is regulated during development and/or ageing and that patterns of accessibility change are linked to specific developmental or physiological processes. The map and characterization of regulatory elements across C. elegans life provides a platform for understanding how transcription controls development and ageing.


2010 ◽  
Vol 97 (1) ◽  
pp. S70-S71
Author(s):  
Busser Benoît ◽  
Lucie Sancey ◽  
Véronique Josserand ◽  
Saadi Khochbin ◽  
Jean-Luc Coll ◽  
...  

Author(s):  
Francesca Anna Carrieri ◽  
Nick Connis ◽  
Eloise Grasset ◽  
Eddie Luidy-Imada ◽  
Andrew Ewald ◽  
...  

2020 ◽  
Vol 2020 ◽  
pp. 1-13
Author(s):  
Lian Wang ◽  
Ruifeng Lu ◽  
Yujia Wang ◽  
Xiaoyun Wang ◽  
Dan Hao ◽  
...  

Rosacea is a chronic and relapsing inflammatory cutaneous disorder with highly variable prevalence worldwide that adversely affects the health of patients and their quality of life. However, the molecular characterization of each rosacea subtype is still unclear. Furthermore, little is known about the role of long noncoding RNAs (lncRNAs) in the pathogenesis or regulatory processes of this disorder. In the current study, we established lncRNA-mRNA coexpression networks for three rosacea subtypes (erythematotelangiectatic, papulopustular, and phymatous) and performed their functional enrichment analyses using Gene Onotology, KEGG, GSEA, and WGCNA. Compared to the control group, 13 differentially expressed lncRNAs and 525 differentially expressed mRNAs were identified in the three rosacea subtypes. The differentially expressed genes identified were enriched in four signaling pathways and the GO terms found were associated with leukocyte migration. In addition, we found nine differentially expressed lncRNAs in all three rosacea subtype-related networks, including NEAT1 and HOTAIR, which may play important roles in the pathology of rosacea. Our study provided novel insights into lncRNA-mRNA coexpression networks to discover the molecular mechanisms involved in rosacea development that can be used as future targets of rosacea diagnosis, prevention, and treatment.


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