CNV-based genome-wide association studies with performance traits in broilers

Detalhes bibliográficos
Autor(a) principal: Fernandes, Anna Carolina
Data de Publicação: 2020
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-11022021-115104/
Resumo: Chicken (Gallus Gallus) is an important source of animal protein, considered a biological research model in the genetics field and a species of considerable economic relevance worldwide, mainly as a consequence of constant improvement of performance traits. In this sense, selection of animals that present phenotypic traits of interest is fundamental. Therefore, the identification of genetic variations and their association with production traits of economic importance are crucial steps for a better understanding of the biological mechanisms that control these complex characteristics. An important source of known variation in the DNA are copy number variations (CNVs), which can contribute significantly to phenotypic variation in several species. In this context, genotypic data from approximately 1,500 animals from a paternal broiler line (TT), obtained using a high-density SNP array (600k, Affymetrix), were used to identify genomic regions and candidate genes associated with performance traits. We performed a CNV-based genome-wide association study (GWAS) using the CNVRanger software, adjusting a linear mixed model, to identify regions in the genome associated with birth weight, body weight at 21 days, body weight at 35 days, body weight at 41 days, body weight at 42 days, feed intake, feed conversion ratio and body weight gain. CNV segments significantly associated with birth weight, body weight at 35, 41 and 42 days and body weight gain were identified. After the association analyses, validation of these significantly associated CNV segments was performed by qPCR. The search for candidate genes was made within each associated genomic region, considering Gene Ontology (GO) terms and also the literature information. We identified novel genomic regions associated with these traits and important candidate genes for muscle growth and development, such as KCNJ11, MyoD1 and SOX6, with known role on chicken growth and muscle development, providing new information for a better understanding of the regulation of genetic control for performance in broilers.
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spelling CNV-based genome-wide association studies with performance traits in broilersAssociação genômica ampla de CNVs com características de desempenho em frangosCNVsCNVsDesempenhoGWASGWASPerformanceqPCRqPCRQTLsQTLsChicken (Gallus Gallus) is an important source of animal protein, considered a biological research model in the genetics field and a species of considerable economic relevance worldwide, mainly as a consequence of constant improvement of performance traits. In this sense, selection of animals that present phenotypic traits of interest is fundamental. Therefore, the identification of genetic variations and their association with production traits of economic importance are crucial steps for a better understanding of the biological mechanisms that control these complex characteristics. An important source of known variation in the DNA are copy number variations (CNVs), which can contribute significantly to phenotypic variation in several species. In this context, genotypic data from approximately 1,500 animals from a paternal broiler line (TT), obtained using a high-density SNP array (600k, Affymetrix), were used to identify genomic regions and candidate genes associated with performance traits. We performed a CNV-based genome-wide association study (GWAS) using the CNVRanger software, adjusting a linear mixed model, to identify regions in the genome associated with birth weight, body weight at 21 days, body weight at 35 days, body weight at 41 days, body weight at 42 days, feed intake, feed conversion ratio and body weight gain. CNV segments significantly associated with birth weight, body weight at 35, 41 and 42 days and body weight gain were identified. After the association analyses, validation of these significantly associated CNV segments was performed by qPCR. The search for candidate genes was made within each associated genomic region, considering Gene Ontology (GO) terms and also the literature information. We identified novel genomic regions associated with these traits and important candidate genes for muscle growth and development, such as KCNJ11, MyoD1 and SOX6, with known role on chicken growth and muscle development, providing new information for a better understanding of the regulation of genetic control for performance in broilers.A galinha (Gallus Gallus) é uma importante fonte de proteína animal e é considerada um modelo biológico de pesquisa principalmente na área da genética. É notável que a produção de carne de frango tem extensa relevância na economia brasileira e mundial, consequência sobretudo da constante melhoria das características de desempenho. Neste sentido, a seleção de animais que apresentam tais características fenotípicas de interesse é fundamental. Nesta perspectiva, a identificação de variações genéticas e sua associação com características de importância zootécnica se apresentam como etapas cruciais para melhor compreensão dos mecanismos biológicos que controlam estas características complexas. Uma importante fonte de variação conhecida no DNA são as variações no número de cópias (CNVs), que podem contribuir significativamente com a variação fenotípica em diversas espécies. Neste contexto, foram utilizados os dados genotípicos de aproximadamente 1.500 animais de uma linha paterna de frangos de corte (TT), obtidos utilizando um chip de SNPs de alta densidade (600k, Affymetrix) para identificar regiões genômicas e genes candidatos associados à características de desempenho. Realizamos análises de associação genômica ampla (GWAS) baseadas em CNV usando o programa CNVRanger, ajustando um modelo linear misto, para identificar regiões no genoma associadas à: peso ao nascimento, peso aos 21 dias, peso aos 35 dias, peso aos 41 dias, peso aos 42 dias, consumo de ração, conversão alimentar e ganho de peso. Segmentos CNV significativamente associados ao peso ao nascimento, peso aos 35, 41 e 42 dias e ganho de peso foram identificados. Após as análises de associação, foi feita a validação destes segmentos CNV signifcativos associados por meio da técnica de qPCR (PCR quantitativa). A busca por genes candidatos foi feita dentro de cada região genômica associada, considerando termos de Gene Ontology (GO) e também a informação da literatura. Foram identificadas novas regiões no genoma associadas a estas características e importantes genes candidatos para crescimento e desenvolvimento muscular, tais como KCNJ11, MyoD1 e SOX6, fornecendo novas informações para melhor compreensão acerca da regulação do controle genético para desempenho em frangos.Biblioteca Digitais de Teses e Dissertações da USPCoutinho, Luiz LehmannFernandes, Anna Carolina2020-12-14info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/masterThesisapplication/pdfhttps://www.teses.usp.br/teses/disponiveis/11/11139/tde-11022021-115104/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/openAccesseng2021-02-16T16:48:01Zoai:teses.usp.br:tde-11022021-115104Biblioteca 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:27212021-02-16T16:48:01Biblioteca Digital de Teses e Dissertações da USP - Universidade de São Paulo (USP)false
dc.title.none.fl_str_mv CNV-based genome-wide association studies with performance traits in broilers
Associação genômica ampla de CNVs com características de desempenho em frangos
title CNV-based genome-wide association studies with performance traits in broilers
spellingShingle CNV-based genome-wide association studies with performance traits in broilers
Fernandes, Anna Carolina
CNVs
CNVs
Desempenho
GWAS
GWAS
Performance
qPCR
qPCR
QTLs
QTLs
title_short CNV-based genome-wide association studies with performance traits in broilers
title_full CNV-based genome-wide association studies with performance traits in broilers
title_fullStr CNV-based genome-wide association studies with performance traits in broilers
title_full_unstemmed CNV-based genome-wide association studies with performance traits in broilers
title_sort CNV-based genome-wide association studies with performance traits in broilers
author Fernandes, Anna Carolina
author_facet Fernandes, Anna Carolina
author_role author
dc.contributor.none.fl_str_mv Coutinho, Luiz Lehmann
dc.contributor.author.fl_str_mv Fernandes, Anna Carolina
dc.subject.por.fl_str_mv CNVs
CNVs
Desempenho
GWAS
GWAS
Performance
qPCR
qPCR
QTLs
QTLs
topic CNVs
CNVs
Desempenho
GWAS
GWAS
Performance
qPCR
qPCR
QTLs
QTLs
description Chicken (Gallus Gallus) is an important source of animal protein, considered a biological research model in the genetics field and a species of considerable economic relevance worldwide, mainly as a consequence of constant improvement of performance traits. In this sense, selection of animals that present phenotypic traits of interest is fundamental. Therefore, the identification of genetic variations and their association with production traits of economic importance are crucial steps for a better understanding of the biological mechanisms that control these complex characteristics. An important source of known variation in the DNA are copy number variations (CNVs), which can contribute significantly to phenotypic variation in several species. In this context, genotypic data from approximately 1,500 animals from a paternal broiler line (TT), obtained using a high-density SNP array (600k, Affymetrix), were used to identify genomic regions and candidate genes associated with performance traits. We performed a CNV-based genome-wide association study (GWAS) using the CNVRanger software, adjusting a linear mixed model, to identify regions in the genome associated with birth weight, body weight at 21 days, body weight at 35 days, body weight at 41 days, body weight at 42 days, feed intake, feed conversion ratio and body weight gain. CNV segments significantly associated with birth weight, body weight at 35, 41 and 42 days and body weight gain were identified. After the association analyses, validation of these significantly associated CNV segments was performed by qPCR. The search for candidate genes was made within each associated genomic region, considering Gene Ontology (GO) terms and also the literature information. We identified novel genomic regions associated with these traits and important candidate genes for muscle growth and development, such as KCNJ11, MyoD1 and SOX6, with known role on chicken growth and muscle development, providing new information for a better understanding of the regulation of genetic control for performance in broilers.
publishDate 2020
dc.date.none.fl_str_mv 2020-12-14
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/masterThesis
format masterThesis
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dc.identifier.uri.fl_str_mv https://www.teses.usp.br/teses/disponiveis/11/11139/tde-11022021-115104/
url https://www.teses.usp.br/teses/disponiveis/11/11139/tde-11022021-115104/
dc.language.iso.fl_str_mv eng
language eng
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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
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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
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reponame:Biblioteca Digital de Teses e Dissertações da USP
instname:Universidade de São Paulo (USP)
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reponame_str Biblioteca Digital de Teses e Dissertações da USP
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