Association of regulatory polymorphisms of gene expression with color phenotypes, water holding capacity, and pH of Nellore meat

Detalhes bibliográficos
Autor(a) principal: Lima, Beatriz Delcarme
Data de Publicação: 2024
Tipo de documento: Dissertação
Idioma: eng
Título da fonte: Biblioteca Digital de Teses e Dissertações da USP
Texto Completo: https://www.teses.usp.br/teses/disponiveis/11/11139/tde-08042024-115109/
Resumo: There is a growing demand for high-quality meat, necessitating the assessment of various traits influenced by intrinsic and extrinsic factors. These traits, governed by multiple genes and environmental influences, pose challenges in measurement due to their cost and the need for animal slaughter. Genomics emerges as a promising solution, as a tool to identify genetic markers regulating a significant portion of additive genetic variation in these traits. In this work, we aimed to identify expression quantitative trait loci (eQTLs) associated with meat quality phenotypes in Nellore cattle, including color, water-holding capacity, and pH. For that, we used a comprehensive single nucleotide polymorphisms (SNPs) panel of 553,581 markers, obtained from an imputed panel of SNPs encompassing genotypes from 778 progenies, DNA sequencing from 26 unrelated Nellore sires, and RNA sequencing data from muscle tissues of 192 progenies. The eQTL analysis, using genotypes of 192 animals, revealed 51,324 eQTLs. Subsequent genome-wide association studies (GWAS) with 374 animals identified 838 eQTLs associated with color, 172 with water-holding capacity, and three with pH. Integration with ATAC-Seq peaks identified 75 eQTLs associated with meat color and 24 associated with water-holding capacity in open chromatin regions. Enrichment analysis uncovered pathways such as immune response, antigen processing and presentation, and glutathione metabolism. Notably, most of genes regulated by eQTLs were associated with these pathways. This comprehensive approach identified putative candidate regulatory variants, and genes associated with meat quality, advancing our understanding of Bos indicus genetics.
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spelling Association of regulatory polymorphisms of gene expression with color phenotypes, water holding capacity, and pH of Nellore meatAssociação de polimorfismos regulatórios de expressão gênica com fenótipos de cor, capacidade de retenção de água e pH da carne de NeloreeQTLeQTLGWASGWASMeat qualityQualidade da carneSNPsSPNsThere is a growing demand for high-quality meat, necessitating the assessment of various traits influenced by intrinsic and extrinsic factors. These traits, governed by multiple genes and environmental influences, pose challenges in measurement due to their cost and the need for animal slaughter. Genomics emerges as a promising solution, as a tool to identify genetic markers regulating a significant portion of additive genetic variation in these traits. In this work, we aimed to identify expression quantitative trait loci (eQTLs) associated with meat quality phenotypes in Nellore cattle, including color, water-holding capacity, and pH. For that, we used a comprehensive single nucleotide polymorphisms (SNPs) panel of 553,581 markers, obtained from an imputed panel of SNPs encompassing genotypes from 778 progenies, DNA sequencing from 26 unrelated Nellore sires, and RNA sequencing data from muscle tissues of 192 progenies. The eQTL analysis, using genotypes of 192 animals, revealed 51,324 eQTLs. Subsequent genome-wide association studies (GWAS) with 374 animals identified 838 eQTLs associated with color, 172 with water-holding capacity, and three with pH. Integration with ATAC-Seq peaks identified 75 eQTLs associated with meat color and 24 associated with water-holding capacity in open chromatin regions. Enrichment analysis uncovered pathways such as immune response, antigen processing and presentation, and glutathione metabolism. Notably, most of genes regulated by eQTLs were associated with these pathways. This comprehensive approach identified putative candidate regulatory variants, and genes associated with meat quality, advancing our understanding of Bos indicus genetics.Há uma demanda crescente por carne de alta qualidade, necessitando da avaliação de diversas características influenciadas por fatores intrínsecos e extrínsecos. Estas características, reguladas por múltiplos genes e influências ambientais, representam desafios na medição devido ao seu custo e à necessidade de abate de animais. A genômica surge como uma solução promissora, como uma ferramenta para identificar marcadores genéticos que regulam uma parcela significativa da variação genética aditiva nessas características. Neste trabalho, nosso objetivo foi identificar locos de expressão quantitativa (eQTLs) associados a fenótipos de qualidade de carne em bovinos Nelore, incluindo cor, capacidade de retenção de água e pH. Para isso, utilizamos um painel abrangente de polimorfismos de nucleotídeo único (SNPs) de 553.581 marcadores, obtido a partir de um painel imputado de SNPs abrangendo genótipos de 778 progênies, sequenciamento de DNA de 26 touros Nelore não aparentados entre si e dados de sequenciamento de RNA de tecidos musculares de 192 progênies. A análise do eQTL, utilizando genótipos de 192 animais, revelou 51.324 eQTLs. Estudos subsequentes de associação genômica ampla (GWAS) com 374 animais identificaram 838 eQTLs associados à cor, 172 à capacidade de retenção de água e três ao pH. A integração com picos de ATAC-Seq identificou 75 eQTLs associados com a cor da carne e 24 associados com capacidade de retenção de água em regiões abertas da cromatina. A análise de enriquecimento funcional revelou caminhos como resposta imune, processamento e apresentação de antígenos e metabolismo da glutationa. Notavelmente, a maioria dos genes regulados por eQTLs foram associados a estas vias. Esta abordagem abrangente identificou possíveis variantes regulatórias candidatas e genes associados à qualidade da carne, avançando nossa compreensão da genética do Bos indicus.Biblioteca Digitais de Teses e Dissertações da USPCoutinho, Luiz LehmannLima, Beatriz Delcarme2024-02-07info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/masterThesisapplication/pdfhttps://www.teses.usp.br/teses/disponiveis/11/11139/tde-08042024-115109/reponame:Biblioteca Digital de Teses e Dissertações da USPinstname:Universidade de São Paulo (USP)instacron:USPLiberar o conteúdo para acesso público.info:eu-repo/semantics/openAccesseng2024-04-08T18:01:02Zoai:teses.usp.br:tde-08042024-115109Biblioteca Digital de Teses e Dissertaçõeshttp://www.teses.usp.br/PUBhttp://www.teses.usp.br/cgi-bin/mtd2br.plvirginia@if.usp.br|| atendimento@aguia.usp.br||virginia@if.usp.bropendoar:27212024-04-08T18:01:02Biblioteca Digital de Teses e Dissertações da USP - Universidade de São Paulo (USP)false
dc.title.none.fl_str_mv Association of regulatory polymorphisms of gene expression with color phenotypes, water holding capacity, and pH of Nellore meat
Associação de polimorfismos regulatórios de expressão gênica com fenótipos de cor, capacidade de retenção de água e pH da carne de Nelore
title Association of regulatory polymorphisms of gene expression with color phenotypes, water holding capacity, and pH of Nellore meat
spellingShingle Association of regulatory polymorphisms of gene expression with color phenotypes, water holding capacity, and pH of Nellore meat
Lima, Beatriz Delcarme
eQTL
eQTL
GWAS
GWAS
Meat quality
Qualidade da carne
SNPs
SPNs
title_short Association of regulatory polymorphisms of gene expression with color phenotypes, water holding capacity, and pH of Nellore meat
title_full Association of regulatory polymorphisms of gene expression with color phenotypes, water holding capacity, and pH of Nellore meat
title_fullStr Association of regulatory polymorphisms of gene expression with color phenotypes, water holding capacity, and pH of Nellore meat
title_full_unstemmed Association of regulatory polymorphisms of gene expression with color phenotypes, water holding capacity, and pH of Nellore meat
title_sort Association of regulatory polymorphisms of gene expression with color phenotypes, water holding capacity, and pH of Nellore meat
author Lima, Beatriz Delcarme
author_facet Lima, Beatriz Delcarme
author_role author
dc.contributor.none.fl_str_mv Coutinho, Luiz Lehmann
dc.contributor.author.fl_str_mv Lima, Beatriz Delcarme
dc.subject.por.fl_str_mv eQTL
eQTL
GWAS
GWAS
Meat quality
Qualidade da carne
SNPs
SPNs
topic eQTL
eQTL
GWAS
GWAS
Meat quality
Qualidade da carne
SNPs
SPNs
description There is a growing demand for high-quality meat, necessitating the assessment of various traits influenced by intrinsic and extrinsic factors. These traits, governed by multiple genes and environmental influences, pose challenges in measurement due to their cost and the need for animal slaughter. Genomics emerges as a promising solution, as a tool to identify genetic markers regulating a significant portion of additive genetic variation in these traits. In this work, we aimed to identify expression quantitative trait loci (eQTLs) associated with meat quality phenotypes in Nellore cattle, including color, water-holding capacity, and pH. For that, we used a comprehensive single nucleotide polymorphisms (SNPs) panel of 553,581 markers, obtained from an imputed panel of SNPs encompassing genotypes from 778 progenies, DNA sequencing from 26 unrelated Nellore sires, and RNA sequencing data from muscle tissues of 192 progenies. The eQTL analysis, using genotypes of 192 animals, revealed 51,324 eQTLs. Subsequent genome-wide association studies (GWAS) with 374 animals identified 838 eQTLs associated with color, 172 with water-holding capacity, and three with pH. Integration with ATAC-Seq peaks identified 75 eQTLs associated with meat color and 24 associated with water-holding capacity in open chromatin regions. Enrichment analysis uncovered pathways such as immune response, antigen processing and presentation, and glutathione metabolism. Notably, most of genes regulated by eQTLs were associated with these pathways. This comprehensive approach identified putative candidate regulatory variants, and genes associated with meat quality, advancing our understanding of Bos indicus genetics.
publishDate 2024
dc.date.none.fl_str_mv 2024-02-07
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/masterThesis
format masterThesis
status_str publishedVersion
dc.identifier.uri.fl_str_mv https://www.teses.usp.br/teses/disponiveis/11/11139/tde-08042024-115109/
url https://www.teses.usp.br/teses/disponiveis/11/11139/tde-08042024-115109/
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv
dc.rights.driver.fl_str_mv Liberar o conteúdo para acesso público.
info:eu-repo/semantics/openAccess
rights_invalid_str_mv Liberar o conteúdo para acesso público.
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.coverage.none.fl_str_mv
dc.publisher.none.fl_str_mv Biblioteca Digitais de Teses e Dissertações da USP
publisher.none.fl_str_mv Biblioteca Digitais de Teses e Dissertações da USP
dc.source.none.fl_str_mv
reponame:Biblioteca Digital de Teses e Dissertações da USP
instname:Universidade de São Paulo (USP)
instacron:USP
instname_str Universidade de São Paulo (USP)
instacron_str USP
institution USP
reponame_str Biblioteca Digital de Teses e Dissertações da USP
collection Biblioteca Digital de Teses e Dissertações da USP
repository.name.fl_str_mv Biblioteca Digital de Teses e Dissertações da USP - Universidade de São Paulo (USP)
repository.mail.fl_str_mv virginia@if.usp.br|| atendimento@aguia.usp.br||virginia@if.usp.br
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