Integrative analysis between genome-wide association study and expression quantitative trait Loci reveals bovine muscle gene expression regulatory polymorphisms associated with intramuscular fat and backfat thickness.

Understanding the architecture of gene expression is fundamental to unravel the molecular mechanisms regulating complex traits in bovine, such as intramuscular fat content (IMF) and backfat thickness (BFT). These traits are economically important for the beef industry since they affect carcass and meat quality. Our main goal was to identify gene expression regulatory polymorphisms within genomic regions (QTL) associated with IMF and BFT in Nellore cattle. For that, we used RNA-Seq data from 193 Nellore steers to perform SNP calling analysis. Then, we combined the RNA-Seq SNP and a high-density SNP panel to obtain a new dataset for further genome-wide association analysis (GWAS), totaling 534,928 SNPs. GWAS was performed using the Bayes B model. Twenty-one relevant QTL were associated with our target traits. The expression quantitative trait loci (eQTL) analysis was performed using Matrix eQTL with the complete SNP dataset and 12,991 genes, revealing a total of 71,033 cis and 36,497 trans-eQTL (FDR < 0.05). Intersecting with QTL for IMF, we found 231 eQTL regulating the expression levels of 117 genes. Within those eQTL, three predicted deleterious SNPs were identified. We also identified 109 eQTL associated with BFT and affecting the expression of 54 genes. This study revealed genomic regions and regulatory SNPs associated with fat deposition in Nellore cattle. We highlight the transcription factors FOXP4, FOXO3, ZSCAN2, and EBF4, involved in lipid metabolism-related pathways. These results helped us to improve our knowledge about the genetic architecture behind important traits in cattle.

Saved in:
Bibliographic Details
Main Authors: VIGNATO, B. S., CESAR, A. S. M., AFONSO, J., MOREIRA, G. C. M., POLETI, M. D., PETRINI, J., GARCIA, I. S., CLEMENTE, L. G., MOURÃO, G. B., REGITANO, L. C. de A., COUTINHO, L. L.
Other Authors: BÁRBARA SILVA VIGNATO, UNIVERSIDADE DE SÃO PAULO
Format: Artigo de periódico biblioteca
Language:Ingles
English
Published: 2022-08-31
Subjects:Backfat thickness, Carcass and meat quality, Expression quantitative trait loci, Intramuscular fat content, RNA Seq, SNP, Nellore cattle, Nellore,
Online Access:http://www.alice.cnptia.embrapa.br/alice/handle/doc/1145918
Tags: Add Tag
No Tags, Be the first to tag this record!
id dig-alice-doc-1145918
record_format koha
spelling dig-alice-doc-11459182022-08-31T17:19:30Z Integrative analysis between genome-wide association study and expression quantitative trait Loci reveals bovine muscle gene expression regulatory polymorphisms associated with intramuscular fat and backfat thickness. VIGNATO, B. S. CESAR, A. S. M. AFONSO, J. MOREIRA, G. C. M. POLETI, M. D. PETRINI, J. GARCIA, I. S. CLEMENTE, L. G. MOURÃO, G. B. REGITANO, L. C. de A. COUTINHO, L. L. BÁRBARA SILVA VIGNATO, UNIVERSIDADE DE SÃO PAULO JULIANA AFONSO, UNIVERSIDADE FEDERAL DE SÃO CARLOS GABRIEL COSTA MONTEIRO MOREIRA, UNIVERSIDADE DE SÃO PAULO MIRELE DAIANA POLETI, UNIVERSIDADE DE SÃO PAULO JULIANA PETRINI, UNIVERSIDADE DE SÃO PAULO INGRID SOARES GARCIA, UNIVERSIDADE DE SÃO PAULO LUAN GASPAR CLEMENTE, UNIVERSIDADE DE SÃO PAULO GERSON BARRETO MOURÃO, UNIVERSIDADE DE SÃO PAULO LUCIANA CORREIA DE ALMEIDA REGITANO, CPPSE LUIZ LEHMANN COUTINHO, UNIVERSIDADE DE SÃO PAULO. ALINE SILVA MELLO CESAR, UNIVERSIDADE DE SÃO PAULO Backfat thickness Carcass and meat quality Expression quantitative trait loci Intramuscular fat content RNA Seq SNP Nellore cattle Nellore Understanding the architecture of gene expression is fundamental to unravel the molecular mechanisms regulating complex traits in bovine, such as intramuscular fat content (IMF) and backfat thickness (BFT). These traits are economically important for the beef industry since they affect carcass and meat quality. Our main goal was to identify gene expression regulatory polymorphisms within genomic regions (QTL) associated with IMF and BFT in Nellore cattle. For that, we used RNA-Seq data from 193 Nellore steers to perform SNP calling analysis. Then, we combined the RNA-Seq SNP and a high-density SNP panel to obtain a new dataset for further genome-wide association analysis (GWAS), totaling 534,928 SNPs. GWAS was performed using the Bayes B model. Twenty-one relevant QTL were associated with our target traits. The expression quantitative trait loci (eQTL) analysis was performed using Matrix eQTL with the complete SNP dataset and 12,991 genes, revealing a total of 71,033 cis and 36,497 trans-eQTL (FDR < 0.05). Intersecting with QTL for IMF, we found 231 eQTL regulating the expression levels of 117 genes. Within those eQTL, three predicted deleterious SNPs were identified. We also identified 109 eQTL associated with BFT and affecting the expression of 54 genes. This study revealed genomic regions and regulatory SNPs associated with fat deposition in Nellore cattle. We highlight the transcription factors FOXP4, FOXO3, ZSCAN2, and EBF4, involved in lipid metabolism-related pathways. These results helped us to improve our knowledge about the genetic architecture behind important traits in cattle. 2022-08-31T17:19:21Z 2022-08-31T17:19:21Z 2022-08-31 2022 Artigo de periódico Frontiers in Genetics, v. 13, 935238, aug. 2022. http://www.alice.cnptia.embrapa.br/alice/handle/doc/1145918 10.3389/fgene.2022.935238 Ingles en openAccess 15 p.
institution EMBRAPA
collection DSpace
country Brasil
countrycode BR
component Bibliográfico
access En linea
databasecode dig-alice
tag biblioteca
region America del Sur
libraryname Sistema de bibliotecas de EMBRAPA
language Ingles
English
topic Backfat thickness
Carcass and meat quality
Expression quantitative trait loci
Intramuscular fat content
RNA Seq
SNP
Nellore cattle
Nellore
Backfat thickness
Carcass and meat quality
Expression quantitative trait loci
Intramuscular fat content
RNA Seq
SNP
Nellore cattle
Nellore
spellingShingle Backfat thickness
Carcass and meat quality
Expression quantitative trait loci
Intramuscular fat content
RNA Seq
SNP
Nellore cattle
Nellore
Backfat thickness
Carcass and meat quality
Expression quantitative trait loci
Intramuscular fat content
RNA Seq
SNP
Nellore cattle
Nellore
VIGNATO, B. S.
CESAR, A. S. M.
AFONSO, J.
MOREIRA, G. C. M.
POLETI, M. D.
PETRINI, J.
GARCIA, I. S.
CLEMENTE, L. G.
MOURÃO, G. B.
REGITANO, L. C. de A.
COUTINHO, L. L.
Integrative analysis between genome-wide association study and expression quantitative trait Loci reveals bovine muscle gene expression regulatory polymorphisms associated with intramuscular fat and backfat thickness.
description Understanding the architecture of gene expression is fundamental to unravel the molecular mechanisms regulating complex traits in bovine, such as intramuscular fat content (IMF) and backfat thickness (BFT). These traits are economically important for the beef industry since they affect carcass and meat quality. Our main goal was to identify gene expression regulatory polymorphisms within genomic regions (QTL) associated with IMF and BFT in Nellore cattle. For that, we used RNA-Seq data from 193 Nellore steers to perform SNP calling analysis. Then, we combined the RNA-Seq SNP and a high-density SNP panel to obtain a new dataset for further genome-wide association analysis (GWAS), totaling 534,928 SNPs. GWAS was performed using the Bayes B model. Twenty-one relevant QTL were associated with our target traits. The expression quantitative trait loci (eQTL) analysis was performed using Matrix eQTL with the complete SNP dataset and 12,991 genes, revealing a total of 71,033 cis and 36,497 trans-eQTL (FDR < 0.05). Intersecting with QTL for IMF, we found 231 eQTL regulating the expression levels of 117 genes. Within those eQTL, three predicted deleterious SNPs were identified. We also identified 109 eQTL associated with BFT and affecting the expression of 54 genes. This study revealed genomic regions and regulatory SNPs associated with fat deposition in Nellore cattle. We highlight the transcription factors FOXP4, FOXO3, ZSCAN2, and EBF4, involved in lipid metabolism-related pathways. These results helped us to improve our knowledge about the genetic architecture behind important traits in cattle.
author2 BÁRBARA SILVA VIGNATO, UNIVERSIDADE DE SÃO PAULO
author_facet BÁRBARA SILVA VIGNATO, UNIVERSIDADE DE SÃO PAULO
VIGNATO, B. S.
CESAR, A. S. M.
AFONSO, J.
MOREIRA, G. C. M.
POLETI, M. D.
PETRINI, J.
GARCIA, I. S.
CLEMENTE, L. G.
MOURÃO, G. B.
REGITANO, L. C. de A.
COUTINHO, L. L.
format Artigo de periódico
topic_facet Backfat thickness
Carcass and meat quality
Expression quantitative trait loci
Intramuscular fat content
RNA Seq
SNP
Nellore cattle
Nellore
author VIGNATO, B. S.
CESAR, A. S. M.
AFONSO, J.
MOREIRA, G. C. M.
POLETI, M. D.
PETRINI, J.
GARCIA, I. S.
CLEMENTE, L. G.
MOURÃO, G. B.
REGITANO, L. C. de A.
COUTINHO, L. L.
author_sort VIGNATO, B. S.
title Integrative analysis between genome-wide association study and expression quantitative trait Loci reveals bovine muscle gene expression regulatory polymorphisms associated with intramuscular fat and backfat thickness.
title_short Integrative analysis between genome-wide association study and expression quantitative trait Loci reveals bovine muscle gene expression regulatory polymorphisms associated with intramuscular fat and backfat thickness.
title_full Integrative analysis between genome-wide association study and expression quantitative trait Loci reveals bovine muscle gene expression regulatory polymorphisms associated with intramuscular fat and backfat thickness.
title_fullStr Integrative analysis between genome-wide association study and expression quantitative trait Loci reveals bovine muscle gene expression regulatory polymorphisms associated with intramuscular fat and backfat thickness.
title_full_unstemmed Integrative analysis between genome-wide association study and expression quantitative trait Loci reveals bovine muscle gene expression regulatory polymorphisms associated with intramuscular fat and backfat thickness.
title_sort integrative analysis between genome-wide association study and expression quantitative trait loci reveals bovine muscle gene expression regulatory polymorphisms associated with intramuscular fat and backfat thickness.
publishDate 2022-08-31
url http://www.alice.cnptia.embrapa.br/alice/handle/doc/1145918
work_keys_str_mv AT vignatobs integrativeanalysisbetweengenomewideassociationstudyandexpressionquantitativetraitlocirevealsbovinemusclegeneexpressionregulatorypolymorphismsassociatedwithintramuscularfatandbackfatthickness
AT cesarasm integrativeanalysisbetweengenomewideassociationstudyandexpressionquantitativetraitlocirevealsbovinemusclegeneexpressionregulatorypolymorphismsassociatedwithintramuscularfatandbackfatthickness
AT afonsoj integrativeanalysisbetweengenomewideassociationstudyandexpressionquantitativetraitlocirevealsbovinemusclegeneexpressionregulatorypolymorphismsassociatedwithintramuscularfatandbackfatthickness
AT moreiragcm integrativeanalysisbetweengenomewideassociationstudyandexpressionquantitativetraitlocirevealsbovinemusclegeneexpressionregulatorypolymorphismsassociatedwithintramuscularfatandbackfatthickness
AT poletimd integrativeanalysisbetweengenomewideassociationstudyandexpressionquantitativetraitlocirevealsbovinemusclegeneexpressionregulatorypolymorphismsassociatedwithintramuscularfatandbackfatthickness
AT petrinij integrativeanalysisbetweengenomewideassociationstudyandexpressionquantitativetraitlocirevealsbovinemusclegeneexpressionregulatorypolymorphismsassociatedwithintramuscularfatandbackfatthickness
AT garciais integrativeanalysisbetweengenomewideassociationstudyandexpressionquantitativetraitlocirevealsbovinemusclegeneexpressionregulatorypolymorphismsassociatedwithintramuscularfatandbackfatthickness
AT clementelg integrativeanalysisbetweengenomewideassociationstudyandexpressionquantitativetraitlocirevealsbovinemusclegeneexpressionregulatorypolymorphismsassociatedwithintramuscularfatandbackfatthickness
AT mouraogb integrativeanalysisbetweengenomewideassociationstudyandexpressionquantitativetraitlocirevealsbovinemusclegeneexpressionregulatorypolymorphismsassociatedwithintramuscularfatandbackfatthickness
AT regitanolcdea integrativeanalysisbetweengenomewideassociationstudyandexpressionquantitativetraitlocirevealsbovinemusclegeneexpressionregulatorypolymorphismsassociatedwithintramuscularfatandbackfatthickness
AT coutinholl integrativeanalysisbetweengenomewideassociationstudyandexpressionquantitativetraitlocirevealsbovinemusclegeneexpressionregulatorypolymorphismsassociatedwithintramuscularfatandbackfatthickness
_version_ 1756028611443294208