Association of predicted deleterious single nucleotide polymorphisms with carcass traits in meat-type chickens

Detalhes bibliográficos
Autor(a) principal: Trevisoli, Priscila Anchieta
Data de Publicação: 2018
Tipo de documento: Dissertação
Idioma: eng
Título da fonte: Biblioteca Digital de Teses e Dissertações da USP
Texto Completo: http://www.teses.usp.br/teses/disponiveis/11/11139/tde-21082018-152925/
Resumo: Breeding has been the mainly responsible for the increase of poultry efficiency in the last decades. The breeding programs are geared towards higher meat yield and feed efficiency. Among the used genomic approaches, genome wide association studies (GWAS) identified quantitative trait loci (QTLs) associated with carcass traits in a meat-type population (TT Reference Population). GWAS analysis identifies variants in linkage disequilibrium with the possible causal mutation and with the aim of refining these results, association study with missense single nucleotide polymorphisms can be useful. A missense SNP can be predicted as deleterious via Sorting Intolerant From Tolerant (SIFT) score when the amino acid change has the potential to impact the protein function and consequently may affects the phenotype. Therefore, in this study, predicted deleterious SNPs within QTLs regions were identified and associated with thigh, drumstick, abdominal fat and breast weight and their yields. Mixed model was used with sex, incubation and SNPs genotypes as fixed effects and family as random effect. From the 20 SNPs analyzed, six were significantly associated (p <0.05) with weight and yield of thigh, breast and drumstick. Three of them s736010549, rs739508259 and rs313532967 are located in the genes WDR77, VWA8 and BARL, respectively. These genes are involved in biological process as steroid hormone signaling pathway, estrogen binding, and regulation of cell proliferation. We determined these genes as candidates for muscle growth. Our strategy allowed the identification of potential causal mutations associated with muscle growth and development.
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spelling Association of predicted deleterious single nucleotide polymorphisms with carcass traits in meat-type chickensAssociação de polimorfismos de base única preditos como deletérios com características de carcaça em frangos de corteTarget sequencingAssociation studyBroilersEstudo de associaçãoFrangosMissense SNPsSNPs não sinônimosTarget sequencingBreeding has been the mainly responsible for the increase of poultry efficiency in the last decades. The breeding programs are geared towards higher meat yield and feed efficiency. Among the used genomic approaches, genome wide association studies (GWAS) identified quantitative trait loci (QTLs) associated with carcass traits in a meat-type population (TT Reference Population). GWAS analysis identifies variants in linkage disequilibrium with the possible causal mutation and with the aim of refining these results, association study with missense single nucleotide polymorphisms can be useful. A missense SNP can be predicted as deleterious via Sorting Intolerant From Tolerant (SIFT) score when the amino acid change has the potential to impact the protein function and consequently may affects the phenotype. Therefore, in this study, predicted deleterious SNPs within QTLs regions were identified and associated with thigh, drumstick, abdominal fat and breast weight and their yields. Mixed model was used with sex, incubation and SNPs genotypes as fixed effects and family as random effect. From the 20 SNPs analyzed, six were significantly associated (p <0.05) with weight and yield of thigh, breast and drumstick. Three of them s736010549, rs739508259 and rs313532967 are located in the genes WDR77, VWA8 and BARL, respectively. These genes are involved in biological process as steroid hormone signaling pathway, estrogen binding, and regulation of cell proliferation. We determined these genes as candidates for muscle growth. Our strategy allowed the identification of potential causal mutations associated with muscle growth and development.O melhoramento genético é o principal responsável pelo aumento da eficiência da produção avícola nas últimas décadas e os programas de melhoramento de aves estão direcionados para um maior rendimento de carne e eficiência alimentar. Dentre as abordagens genômicas, estudos de associação genômica ampla (GWAS) identificaram loci associados com características quantitativas (QTLs) de carcaça em uma população de frangos de corte. Análise de GWAS identifica regiões em desequilíbrio de ligação com possíveis mutações causais e com o objetivo de refinar esses resultados, estudos de associações usando polimorfismos de base única (SNPs) não sinônimos podem ser úteis. O SNP não sinônimo pode ser predito como deletério por meio do Sorting Intolerant From Tolerant (SIFT) score quando a alteração de aminoácidos tem o potencial de impactar a função da proteína e consequentemente pode afetar o fenótipo. Portanto, neste estudo, SNPs preditos como deletérios localizados em regiões de QTLs foram identificados e associados com peso e rendimento de coxa, sobrecoxa, gordura abdominal e peito de frangos de corte. Modelo misto foi utilizado, com sexo, incubação e genótipos dos SNPs como efeitos fixos e família como efeito aleatório. De 20 SNPs analisados, seis foram associados significativamente (p<0,05) com peso e rendimento de coxa, sobrecoxa e peito, e três deles rs736010549, rs739508259 e rs313532967 estão presentes nos genes WDR77, VWA8 e BARL, respectivamente. Estes genes estão relacionados com processos biológicos como via de sinalização de esteroide, receptores de estrogênio e de ácidos biliares. Nossa estratégia permitiu a identificação de potenciais mutações causais associadas com crescimento e desenvolvimento muscular.Biblioteca Digitais de Teses e Dissertações da USPCoutinho, Luiz LehmannTrevisoli, Priscila Anchieta2018-05-11info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/masterThesisapplication/pdfhttp://www.teses.usp.br/teses/disponiveis/11/11139/tde-21082018-152925/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/openAccesseng2018-10-03T01:45:28Zoai:teses.usp.br:tde-21082018-152925Biblioteca 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:27212018-10-03T01:45:28Biblioteca Digital de Teses e Dissertações da USP - Universidade de São Paulo (USP)false
dc.title.none.fl_str_mv Association of predicted deleterious single nucleotide polymorphisms with carcass traits in meat-type chickens
Associação de polimorfismos de base única preditos como deletérios com características de carcaça em frangos de corte
title Association of predicted deleterious single nucleotide polymorphisms with carcass traits in meat-type chickens
spellingShingle Association of predicted deleterious single nucleotide polymorphisms with carcass traits in meat-type chickens
Trevisoli, Priscila Anchieta
Target sequencing
Association study
Broilers
Estudo de associação
Frangos
Missense SNPs
SNPs não sinônimos
Target sequencing
title_short Association of predicted deleterious single nucleotide polymorphisms with carcass traits in meat-type chickens
title_full Association of predicted deleterious single nucleotide polymorphisms with carcass traits in meat-type chickens
title_fullStr Association of predicted deleterious single nucleotide polymorphisms with carcass traits in meat-type chickens
title_full_unstemmed Association of predicted deleterious single nucleotide polymorphisms with carcass traits in meat-type chickens
title_sort Association of predicted deleterious single nucleotide polymorphisms with carcass traits in meat-type chickens
author Trevisoli, Priscila Anchieta
author_facet Trevisoli, Priscila Anchieta
author_role author
dc.contributor.none.fl_str_mv Coutinho, Luiz Lehmann
dc.contributor.author.fl_str_mv Trevisoli, Priscila Anchieta
dc.subject.por.fl_str_mv Target sequencing
Association study
Broilers
Estudo de associação
Frangos
Missense SNPs
SNPs não sinônimos
Target sequencing
topic Target sequencing
Association study
Broilers
Estudo de associação
Frangos
Missense SNPs
SNPs não sinônimos
Target sequencing
description Breeding has been the mainly responsible for the increase of poultry efficiency in the last decades. The breeding programs are geared towards higher meat yield and feed efficiency. Among the used genomic approaches, genome wide association studies (GWAS) identified quantitative trait loci (QTLs) associated with carcass traits in a meat-type population (TT Reference Population). GWAS analysis identifies variants in linkage disequilibrium with the possible causal mutation and with the aim of refining these results, association study with missense single nucleotide polymorphisms can be useful. A missense SNP can be predicted as deleterious via Sorting Intolerant From Tolerant (SIFT) score when the amino acid change has the potential to impact the protein function and consequently may affects the phenotype. Therefore, in this study, predicted deleterious SNPs within QTLs regions were identified and associated with thigh, drumstick, abdominal fat and breast weight and their yields. Mixed model was used with sex, incubation and SNPs genotypes as fixed effects and family as random effect. From the 20 SNPs analyzed, six were significantly associated (p <0.05) with weight and yield of thigh, breast and drumstick. Three of them s736010549, rs739508259 and rs313532967 are located in the genes WDR77, VWA8 and BARL, respectively. These genes are involved in biological process as steroid hormone signaling pathway, estrogen binding, and regulation of cell proliferation. We determined these genes as candidates for muscle growth. Our strategy allowed the identification of potential causal mutations associated with muscle growth and development.
publishDate 2018
dc.date.none.fl_str_mv 2018-05-11
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 http://www.teses.usp.br/teses/disponiveis/11/11139/tde-21082018-152925/
url http://www.teses.usp.br/teses/disponiveis/11/11139/tde-21082018-152925/
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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