Genetic parameters and genome-wide association study for linear conformation traits, milking ease and temperament in Dairy Gir
Autor(a) principal: | |
---|---|
Data de Publicação: | 2020 |
Tipo de documento: | Dissertação |
Idioma: | eng |
Título da fonte: | Repositório Institucional da UNESP |
Texto Completo: | http://hdl.handle.net/11449/194155 |
Resumo: | Conformation and handling traits can be used in the indirect selection to improve longevity, health, and welfare of dairy cattle. To optimize genetic gains for these traits it is necessary use statistical models that will best fit the phenotypic data and allow the understanding on how these traits respond to selection and their genetic association with milk yield. The knowledge about genetic variants that may be associated with these traits can also contribute to the selection process. The objective of this study was to determine how fixed and random effects should be included in the statistical models for conformation traits, milking ease, temperament, and 305-days cumulative milk yield for Dairy Gir cattle and estimate genetic and phenotypic parameters. Besides, aimed identify genes and quantitative trait loci (QTL) associated with udder conformation traits, milking ease, and temperament of the breed. The genotype and phenotype records used in this study was provided by Embrapa Dairy Cattle (Embrapa Gado de Leite). To identify the model that fitted the data better, four models were tested in one-trait analyses performed to estimate the variance components using the Average Information Restricted Maximum Likelihood (AIREML) within linear and threshold model. Akaike information criterion (AIC) and Bayesian information criterion (BIC) were used to identify which model fitted the data better. Two-trait analyses were performed using AIREML methodology to estimate genetic and phenotypic parameters for the studied traits. The weighted single-step genome-wide association study methodology was used to identify moving windows of 20 adjacent SNP that explained more than 1% of the total genetic variance. Candidate genes were annotated inside the identified widows using the ARS-UCD1.2 bovine genome assembly, and QTL annotation was performed using the UMD3.1 bovine genome assembly. Functional information and biological pathways were identified using the candidate genes. Linear models performed better than threshold models based on their AIC and BIC values. Among the linear models, the one that included only significant (p<0.05) fixed effects and contemporary group (CG) as random effect fitted better the phenotypic data, based on the AIC and BIC values. Heritability estimates for the studied traits ranged from 0.07 (0.01) to 0.50 (0.03). Heritability and repeatability estimates for continuous traits were higher when compared to heritability estimates from traits measured in categorical scale. The selection to increase rump length, rear udder width, udder depth, and teat diameter can contribute to increase the mean of milk yield due to genetic correlation estimates between them. The genomic association study identified important genes and relevant QTL for udder conformation and handling traits. Fore udder attachment was associated with three genomic windows (BTA 1, 21, and 28). Among the identified genes within these regions, the KLC1 and XRCC3 (BTA21) were found express in mammary gland tissue which make them candidates genes related to the studied trait. For rear udder width, one genetic window located on BTA1 was found explained more than 1% of the genetic variance. Genomic windows on BTA1, were identified for fore udder attachment and rear udder width overlapping. For both windows, the URB1 was found which can make it a candidate gene; however, little in know about its function. Five windows were located on BTA 5, 6, 9, 14, and 16 for udder depth. On BTA14, two candidate genes were identified (CYP7B1 and BHLHE22) and both genes were found related to mammary gland tissue. The CYP7B1 gene was related to onset the puberty, estrogenic functions, and reproductive organs and mammary gland development. For milking ease and temperament, two (BTA 5 and 19) and three (BTA 4, 18, and 29) windows was associated with the traits, respectively. One gene (CA10) was identified for milking ease within BTA 19 which is related with synapses function in the cerebrum and plays a role in secretory pathways. Two genes were identified for temperament located on BTA4 and BTA18 (TFEC and CDH11, respectively) and they are related with behavioral traits. Based on these results, the statistic model with the best fit for the phenotypic data included only statistically significant (p<0.05) fixed effects and CG as random effect. Heritability estimates showed that it is possibly change the studied traits through selection. The traits with the high response to selection will be stature, teat length, and navel length. The results obtained from the genomic association study can be helpful to understand the genetic structure of the udder conformation traits, milking ease, and temperament; specially, fore udder attachment, udder depth, milking ease, and temperament. All results found here are very important in the breed genetic development and can be applied in the Gir breeding program. |
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Genetic parameters and genome-wide association study for linear conformation traits, milking ease and temperament in Dairy GirParâmetros genéticos e associação genômica ampla para características lineares de conformação, facilidade de ordenha e temperamento em Gir LeiteiroDairy cattleSelectionSNPwelfareWssGWASZebu cattleBem-estarBovinos de leiteSeleçãoZebuínoConformation and handling traits can be used in the indirect selection to improve longevity, health, and welfare of dairy cattle. To optimize genetic gains for these traits it is necessary use statistical models that will best fit the phenotypic data and allow the understanding on how these traits respond to selection and their genetic association with milk yield. The knowledge about genetic variants that may be associated with these traits can also contribute to the selection process. The objective of this study was to determine how fixed and random effects should be included in the statistical models for conformation traits, milking ease, temperament, and 305-days cumulative milk yield for Dairy Gir cattle and estimate genetic and phenotypic parameters. Besides, aimed identify genes and quantitative trait loci (QTL) associated with udder conformation traits, milking ease, and temperament of the breed. The genotype and phenotype records used in this study was provided by Embrapa Dairy Cattle (Embrapa Gado de Leite). To identify the model that fitted the data better, four models were tested in one-trait analyses performed to estimate the variance components using the Average Information Restricted Maximum Likelihood (AIREML) within linear and threshold model. Akaike information criterion (AIC) and Bayesian information criterion (BIC) were used to identify which model fitted the data better. Two-trait analyses were performed using AIREML methodology to estimate genetic and phenotypic parameters for the studied traits. The weighted single-step genome-wide association study methodology was used to identify moving windows of 20 adjacent SNP that explained more than 1% of the total genetic variance. Candidate genes were annotated inside the identified widows using the ARS-UCD1.2 bovine genome assembly, and QTL annotation was performed using the UMD3.1 bovine genome assembly. Functional information and biological pathways were identified using the candidate genes. Linear models performed better than threshold models based on their AIC and BIC values. Among the linear models, the one that included only significant (p<0.05) fixed effects and contemporary group (CG) as random effect fitted better the phenotypic data, based on the AIC and BIC values. Heritability estimates for the studied traits ranged from 0.07 (0.01) to 0.50 (0.03). Heritability and repeatability estimates for continuous traits were higher when compared to heritability estimates from traits measured in categorical scale. The selection to increase rump length, rear udder width, udder depth, and teat diameter can contribute to increase the mean of milk yield due to genetic correlation estimates between them. The genomic association study identified important genes and relevant QTL for udder conformation and handling traits. Fore udder attachment was associated with three genomic windows (BTA 1, 21, and 28). Among the identified genes within these regions, the KLC1 and XRCC3 (BTA21) were found express in mammary gland tissue which make them candidates genes related to the studied trait. For rear udder width, one genetic window located on BTA1 was found explained more than 1% of the genetic variance. Genomic windows on BTA1, were identified for fore udder attachment and rear udder width overlapping. For both windows, the URB1 was found which can make it a candidate gene; however, little in know about its function. Five windows were located on BTA 5, 6, 9, 14, and 16 for udder depth. On BTA14, two candidate genes were identified (CYP7B1 and BHLHE22) and both genes were found related to mammary gland tissue. The CYP7B1 gene was related to onset the puberty, estrogenic functions, and reproductive organs and mammary gland development. For milking ease and temperament, two (BTA 5 and 19) and three (BTA 4, 18, and 29) windows was associated with the traits, respectively. One gene (CA10) was identified for milking ease within BTA 19 which is related with synapses function in the cerebrum and plays a role in secretory pathways. Two genes were identified for temperament located on BTA4 and BTA18 (TFEC and CDH11, respectively) and they are related with behavioral traits. Based on these results, the statistic model with the best fit for the phenotypic data included only statistically significant (p<0.05) fixed effects and CG as random effect. Heritability estimates showed that it is possibly change the studied traits through selection. The traits with the high response to selection will be stature, teat length, and navel length. The results obtained from the genomic association study can be helpful to understand the genetic structure of the udder conformation traits, milking ease, and temperament; specially, fore udder attachment, udder depth, milking ease, and temperament. All results found here are very important in the breed genetic development and can be applied in the Gir breeding program.Características lineares de conformação e manejo podem ser utilizadas na seleção indireta para melhorar longevidade, saúde e bem-estar dos bovinos leiteiros. Para se otimizar os ganhos genéticos para essas características é necessário utilizar modelos estatísticos que melhor ajustarão os dados fenotípicos e que permitam a compreensão sobre como essas características respondem à seleção e a sua associação genética com a produção de leite. O conhecimento sobre variantes genéticas que podem ser associadas a essas características também pode contribuir para o processo de seleção. Assim, o objetivo desse estudo foi determinar como os efeitos fixos e aleatórios devem ser incluídos nos modelos estatísticos para as características de conformação, facilidade de ordenha, temperamento e produção de leite acumulada até os 305 dias no Gir Leiteiro e estimar parâmetros genéticos e fenotípicos. Além disso, objetivou-se identificar genes e QTL associados com as características de conformação de úbere, facilidade de ordenha e temperamento da raça. Os registros fenotípicos e genotípicos utilizados nesse estudo foram cedidos pela Embrapa Gado de Leite. Para identificar o modelo estatístico que melhor ajustaria os dados, quatro modelos foram testados em análises uni-características, realizadas para estimar os componentes de variância utilizando o algoritmo AIREML em modelos lineares e multinomiais. O Critério de Informação Akaike (AIC) e o Critério de Informação Bayesiano (BIC) foram utilizados para identificar qual modelo ajustou melhor os dados. Análises bi-características utilizando a metodologia AIREML foram realizadas para estimar parâmetros genéticos e fenotípicos das características estudadas. A metodologia de estudo de associação genômica ampla de passo único ponderada (WssGWAS) foi utilizada para identificar janelas deslizantes com 20 SNP adjacentes que explicassem mais que 1% de toda variação genética. Os genes candidatos foram anotados nas janelas identificadas utilizando a montagem de referência do genoma bovino ARS-UCD1.2 e a anotação de QTL foi realizada utilizando a montagem de referência do genoma bovino UMD3.1. As informações funcionais e vias metabólicas foram identificadas utilizando os genes candidatos encontrados. Os modelos lineares ajustaram melhor os dados fenotípicos do que os modelos multinomiais, com base nos valores de AIC e BIC. Entre os modelos lineares, aquele que inclui somente os efeitos fixos significativos (p<0.05) e grupo de contemporâneos (GC) como efeito aleatório ajustou melhor os dados fenotípicos, baseado nos valores de AIC e BIC. Estimativas de herdabilidade para as características estudadas variaram entre 0,07(0,01) a 0,50 (0,03). Estimativas de herdabilidade e repetibilidade para as características medidas em escala contínua foram mais altas quando comparadas com aquelas para as características medidas escala categórica. A seleção para aumentar o comprimento de garupa, largura posterior do úbere, profundidade de úbere e diâmetros dos tetos pode contribuir para aumentar a média de produção de leite devido as estimativas de correlação genética entre as mesmas. O estudo de associação genômica ampla identificou genes importantes e QTL relevantes para as características de conformação de úbere e comportamentais. Três janelas genômicas foram identificadas associadas com a característica de ligamento do úbere anterior (BTA 1, 21 e 28). Entre os genes identificados dentro dessas regiões, o KLC1 e o XRCC3 (BTA 21) foram encontrados expressos em tecidos da glândula mamária, o que faz desses genes candidatos para a característica estudada. Para largura posterior do úbere, uma janela genômica foi encontrada no BTA1 explicando mais que 1% da variância genética aditiva. Janelas genômicas no BTA 1 foram identificadas sobrepostas para as características ligamento do úbere anterior e largura posterior do úbere. Para ambas as janelas, o URB1 foi identificado, o que faz desse gene candidato, porém pouco se sabe sobre suas funções. Cinco janelas foram localizadas nos BTA 5, 6, 9, 14 e 16 para a característica profundidade de úbere. No BTA 14, dois genes candidatos foram encontrados (CYP7B1 e BHLHE22) e ambos foram identificados relacionados à glândula mamária. O gene CYP7B1 foi relacionado com o início da puberdade, funções estrogênicas e desenvolvimento dos órgãos reprodutivos e desenvolvimento da glândula mamária. Para facilidade de ordenha e temperamento, duas (BTA 5 e 19) e três (BTA 4, 18 e 29) janelas foram associadas com as características, respectivamente. Um gene (CA10) foi identificado para facilidade de ordenha no BTA19, o qual está relacionado com as funções sinápticas no cerebelo e participa em vias secretoras. Dois genes foram identificados para temperamento no BTA4 e BTA18 (TFEC e CDH11, respectivamente) e estão relacionados com características comportamentais. Pelos resultados, o modelo estatístico que melhor ajustou os dados fenotípicos incluiu somente efeitos fixos estatisticamente significativos (p<0,05) e GC como efeito aleatório. A partir das estimativas de herdabilidade, é possível melhorar as características estudadas por meio da seleção. As características com maior resposta à seleção serão altura de garupa, comprimento dos tetos e comprimento do umbigo. Os resultados obtidos do estudo de associação genômica podem ser úteis no entendimento da estrutura genética das características de conformação do úbere, facilidade de ordenha e temperamento, principalmente para ligamento anterior, profundidade do úbere, facilidade de ordenha e temperamento. Os resultados encontrados são relevantes e podem ser aplicados no programa de seleção da raça Gir.Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)Capes: código de financiamento 001FAPESP: 2018/23664-5FAPESP: 2019/09763-6Universidade Estadual Paulista (Unesp)Munari, Danísio Prado [UNESP]Panetto, João Cláudio do CarmoChud, Tatiane Cristina SeleguimUniversidade Estadual Paulista (Unesp)Cunha, Samla Marques Freire2020-10-22T17:08:56Z2020-10-22T17:08:56Z2020-07-31info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/masterThesisapplication/pdfhttp://hdl.handle.net/11449/19415533004102030P4enginfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da UNESPinstname:Universidade Estadual Paulista (UNESP)instacron:UNESP2024-06-05T13:33:01Zoai:repositorio.unesp.br:11449/194155Repositório InstitucionalPUBhttp://repositorio.unesp.br/oai/requestopendoar:29462024-08-05T21:34:11.764615Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP)false |
dc.title.none.fl_str_mv |
Genetic parameters and genome-wide association study for linear conformation traits, milking ease and temperament in Dairy Gir Parâmetros genéticos e associação genômica ampla para características lineares de conformação, facilidade de ordenha e temperamento em Gir Leiteiro |
title |
Genetic parameters and genome-wide association study for linear conformation traits, milking ease and temperament in Dairy Gir |
spellingShingle |
Genetic parameters and genome-wide association study for linear conformation traits, milking ease and temperament in Dairy Gir Cunha, Samla Marques Freire Dairy cattle Selection SNP welfare WssGWAS Zebu cattle Bem-estar Bovinos de leite Seleção Zebuíno |
title_short |
Genetic parameters and genome-wide association study for linear conformation traits, milking ease and temperament in Dairy Gir |
title_full |
Genetic parameters and genome-wide association study for linear conformation traits, milking ease and temperament in Dairy Gir |
title_fullStr |
Genetic parameters and genome-wide association study for linear conformation traits, milking ease and temperament in Dairy Gir |
title_full_unstemmed |
Genetic parameters and genome-wide association study for linear conformation traits, milking ease and temperament in Dairy Gir |
title_sort |
Genetic parameters and genome-wide association study for linear conformation traits, milking ease and temperament in Dairy Gir |
author |
Cunha, Samla Marques Freire |
author_facet |
Cunha, Samla Marques Freire |
author_role |
author |
dc.contributor.none.fl_str_mv |
Munari, Danísio Prado [UNESP] Panetto, João Cláudio do Carmo Chud, Tatiane Cristina Seleguim Universidade Estadual Paulista (Unesp) |
dc.contributor.author.fl_str_mv |
Cunha, Samla Marques Freire |
dc.subject.por.fl_str_mv |
Dairy cattle Selection SNP welfare WssGWAS Zebu cattle Bem-estar Bovinos de leite Seleção Zebuíno |
topic |
Dairy cattle Selection SNP welfare WssGWAS Zebu cattle Bem-estar Bovinos de leite Seleção Zebuíno |
description |
Conformation and handling traits can be used in the indirect selection to improve longevity, health, and welfare of dairy cattle. To optimize genetic gains for these traits it is necessary use statistical models that will best fit the phenotypic data and allow the understanding on how these traits respond to selection and their genetic association with milk yield. The knowledge about genetic variants that may be associated with these traits can also contribute to the selection process. The objective of this study was to determine how fixed and random effects should be included in the statistical models for conformation traits, milking ease, temperament, and 305-days cumulative milk yield for Dairy Gir cattle and estimate genetic and phenotypic parameters. Besides, aimed identify genes and quantitative trait loci (QTL) associated with udder conformation traits, milking ease, and temperament of the breed. The genotype and phenotype records used in this study was provided by Embrapa Dairy Cattle (Embrapa Gado de Leite). To identify the model that fitted the data better, four models were tested in one-trait analyses performed to estimate the variance components using the Average Information Restricted Maximum Likelihood (AIREML) within linear and threshold model. Akaike information criterion (AIC) and Bayesian information criterion (BIC) were used to identify which model fitted the data better. Two-trait analyses were performed using AIREML methodology to estimate genetic and phenotypic parameters for the studied traits. The weighted single-step genome-wide association study methodology was used to identify moving windows of 20 adjacent SNP that explained more than 1% of the total genetic variance. Candidate genes were annotated inside the identified widows using the ARS-UCD1.2 bovine genome assembly, and QTL annotation was performed using the UMD3.1 bovine genome assembly. Functional information and biological pathways were identified using the candidate genes. Linear models performed better than threshold models based on their AIC and BIC values. Among the linear models, the one that included only significant (p<0.05) fixed effects and contemporary group (CG) as random effect fitted better the phenotypic data, based on the AIC and BIC values. Heritability estimates for the studied traits ranged from 0.07 (0.01) to 0.50 (0.03). Heritability and repeatability estimates for continuous traits were higher when compared to heritability estimates from traits measured in categorical scale. The selection to increase rump length, rear udder width, udder depth, and teat diameter can contribute to increase the mean of milk yield due to genetic correlation estimates between them. The genomic association study identified important genes and relevant QTL for udder conformation and handling traits. Fore udder attachment was associated with three genomic windows (BTA 1, 21, and 28). Among the identified genes within these regions, the KLC1 and XRCC3 (BTA21) were found express in mammary gland tissue which make them candidates genes related to the studied trait. For rear udder width, one genetic window located on BTA1 was found explained more than 1% of the genetic variance. Genomic windows on BTA1, were identified for fore udder attachment and rear udder width overlapping. For both windows, the URB1 was found which can make it a candidate gene; however, little in know about its function. Five windows were located on BTA 5, 6, 9, 14, and 16 for udder depth. On BTA14, two candidate genes were identified (CYP7B1 and BHLHE22) and both genes were found related to mammary gland tissue. The CYP7B1 gene was related to onset the puberty, estrogenic functions, and reproductive organs and mammary gland development. For milking ease and temperament, two (BTA 5 and 19) and three (BTA 4, 18, and 29) windows was associated with the traits, respectively. One gene (CA10) was identified for milking ease within BTA 19 which is related with synapses function in the cerebrum and plays a role in secretory pathways. Two genes were identified for temperament located on BTA4 and BTA18 (TFEC and CDH11, respectively) and they are related with behavioral traits. Based on these results, the statistic model with the best fit for the phenotypic data included only statistically significant (p<0.05) fixed effects and CG as random effect. Heritability estimates showed that it is possibly change the studied traits through selection. The traits with the high response to selection will be stature, teat length, and navel length. The results obtained from the genomic association study can be helpful to understand the genetic structure of the udder conformation traits, milking ease, and temperament; specially, fore udder attachment, udder depth, milking ease, and temperament. All results found here are very important in the breed genetic development and can be applied in the Gir breeding program. |
publishDate |
2020 |
dc.date.none.fl_str_mv |
2020-10-22T17:08:56Z 2020-10-22T17:08:56Z 2020-07-31 |
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://hdl.handle.net/11449/194155 33004102030P4 |
url |
http://hdl.handle.net/11449/194155 |
identifier_str_mv |
33004102030P4 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.publisher.none.fl_str_mv |
Universidade Estadual Paulista (Unesp) |
publisher.none.fl_str_mv |
Universidade Estadual Paulista (Unesp) |
dc.source.none.fl_str_mv |
reponame:Repositório Institucional da UNESP instname:Universidade Estadual Paulista (UNESP) instacron:UNESP |
instname_str |
Universidade Estadual Paulista (UNESP) |
instacron_str |
UNESP |
institution |
UNESP |
reponame_str |
Repositório Institucional da UNESP |
collection |
Repositório Institucional da UNESP |
repository.name.fl_str_mv |
Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP) |
repository.mail.fl_str_mv |
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1808129336878825472 |