Mapping Expression Quantitative Trait Loci Targeting Candidate Genes for Pregnancy in Beef Cows

Despite collective efforts to understand the complex regulation of reproductive traits, no causative genes and/or mutations have been reported yet. By integrating genomics and transcriptomics data, potential regulatory mechanisms may be unveiled, providing opportunities to dissect the genetic factor...

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Main Authors: Wellison J. S. Diniz, Juliana Afonso, Nicholas C. Kertz, Paul W. Dyce, Priyanka Banerjee
Format: Article
Language:English
Published: MDPI AG 2024-01-01
Series:Biomolecules
Subjects:
Online Access:https://www.mdpi.com/2218-273X/14/2/150
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author Wellison J. S. Diniz
Juliana Afonso
Nicholas C. Kertz
Paul W. Dyce
Priyanka Banerjee
author_facet Wellison J. S. Diniz
Juliana Afonso
Nicholas C. Kertz
Paul W. Dyce
Priyanka Banerjee
author_sort Wellison J. S. Diniz
collection DOAJ
description Despite collective efforts to understand the complex regulation of reproductive traits, no causative genes and/or mutations have been reported yet. By integrating genomics and transcriptomics data, potential regulatory mechanisms may be unveiled, providing opportunities to dissect the genetic factors governing fertility. Herein, we identified regulatory variants from RNA-Seq data associated with gene expression regulation in the uterine luminal epithelial cells of beef cows. We identified 4676 cis and 7682 trans eQTLs (expression quantitative trait loci) affecting the expression of 1120 and 2503 genes, respectively (FDR < 0.05). These variants affected the expression of transcription factor coding genes (71 cis and 193 trans eQTLs) and genes previously reported as differentially expressed between pregnant and nonpregnant cows. Functional over-representation analysis highlighted pathways related to metabolism, immune response, and hormone signaling (estrogen and GnRH) affected by eQTL-regulated genes (<i>p</i>-value ≤ 0.01). Furthermore, eQTLs were enriched in QTL regions for 13 reproduction-related traits from the CattleQTLdb (FDR ≤ 0.05). Our study provides novel insights into the genetic basis of reproductive processes in cattle. The underlying causal mechanisms modulating the expression of uterine genes warrant further investigation.
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spelling doaj.art-197b036d1d6a47b6b9a28f663af680aa2024-02-23T15:09:13ZengMDPI AGBiomolecules2218-273X2024-01-0114215010.3390/biom14020150Mapping Expression Quantitative Trait Loci Targeting Candidate Genes for Pregnancy in Beef CowsWellison J. S. Diniz0Juliana Afonso1Nicholas C. Kertz2Paul W. Dyce3Priyanka Banerjee4Department of Animal Sciences, Auburn University, Auburn, AL 36849, USAEmbrapa Pecuária Sudeste, Rodovia Washington Luiz, Km 234, s/n, Fazenda Canchim, São Carlos 13560-970, SP, BrazilDepartment of Animal Sciences, Auburn University, Auburn, AL 36849, USADepartment of Animal Sciences, Auburn University, Auburn, AL 36849, USADepartment of Animal Sciences, Auburn University, Auburn, AL 36849, USADespite collective efforts to understand the complex regulation of reproductive traits, no causative genes and/or mutations have been reported yet. By integrating genomics and transcriptomics data, potential regulatory mechanisms may be unveiled, providing opportunities to dissect the genetic factors governing fertility. Herein, we identified regulatory variants from RNA-Seq data associated with gene expression regulation in the uterine luminal epithelial cells of beef cows. We identified 4676 cis and 7682 trans eQTLs (expression quantitative trait loci) affecting the expression of 1120 and 2503 genes, respectively (FDR < 0.05). These variants affected the expression of transcription factor coding genes (71 cis and 193 trans eQTLs) and genes previously reported as differentially expressed between pregnant and nonpregnant cows. Functional over-representation analysis highlighted pathways related to metabolism, immune response, and hormone signaling (estrogen and GnRH) affected by eQTL-regulated genes (<i>p</i>-value ≤ 0.01). Furthermore, eQTLs were enriched in QTL regions for 13 reproduction-related traits from the CattleQTLdb (FDR ≤ 0.05). Our study provides novel insights into the genetic basis of reproductive processes in cattle. The underlying causal mechanisms modulating the expression of uterine genes warrant further investigation.https://www.mdpi.com/2218-273X/14/2/150cow fertilityeQTLgene expressionregulatory variantsreproduction
spellingShingle Wellison J. S. Diniz
Juliana Afonso
Nicholas C. Kertz
Paul W. Dyce
Priyanka Banerjee
Mapping Expression Quantitative Trait Loci Targeting Candidate Genes for Pregnancy in Beef Cows
Biomolecules
cow fertility
eQTL
gene expression
regulatory variants
reproduction
title Mapping Expression Quantitative Trait Loci Targeting Candidate Genes for Pregnancy in Beef Cows
title_full Mapping Expression Quantitative Trait Loci Targeting Candidate Genes for Pregnancy in Beef Cows
title_fullStr Mapping Expression Quantitative Trait Loci Targeting Candidate Genes for Pregnancy in Beef Cows
title_full_unstemmed Mapping Expression Quantitative Trait Loci Targeting Candidate Genes for Pregnancy in Beef Cows
title_short Mapping Expression Quantitative Trait Loci Targeting Candidate Genes for Pregnancy in Beef Cows
title_sort mapping expression quantitative trait loci targeting candidate genes for pregnancy in beef cows
topic cow fertility
eQTL
gene expression
regulatory variants
reproduction
url https://www.mdpi.com/2218-273X/14/2/150
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