Genome-wide association and functional genomic analyses for udder conformation traits derived from data recorded by robotic milking systems in American Holstein cattle

[EN] The implementation of automatic milking systems (AMS) in modern dairy farming has significantly facilitated genetic evaluation of udder conformation traits in dairy cattle. As AMS-based udder conformation traits are highly heritable in Holstein cattle, this study aimed to identify genomic regio...

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Autores: Medeiros, Gabriel C., Ferraz, Jose Bento S., Sousa, Luis Paulo B., Chen, Shi-Yi, Suárez Vega, Aroa, Pedrosa, Victor B., Rojas de Oliveira, Hinayah, Brito, Luiz
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2025
País:España
Institución:Universidad de León
Repositorio:BULERIA. Repositorio Institucional de la Universidad de León
OAI Identifier:oai:dnet:buleria_____::63d6546f0eaf7532d80c8fe62377fedb
Acceso en línea:https://www.sciencedirect.com/science/article/pii/S0022030225008124?via%3Dihub
https://hdl.handle.net/10612/28187
Access Level:acceso abierto
Palabra clave:Genética
Producción animal
Dairy cattle
Functional enrichment
GWAS
Quantitative trait loci
Milking robots
3104 Producción Animal
3109.02 Genética
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oai_identifier_str oai:dnet:buleria_____::63d6546f0eaf7532d80c8fe62377fedb
network_acronym_str ES
network_name_str España
repository_id_str
dc.title.none.fl_str_mv Genome-wide association and functional genomic analyses for udder conformation traits derived from data recorded by robotic milking systems in American Holstein cattle
title Genome-wide association and functional genomic analyses for udder conformation traits derived from data recorded by robotic milking systems in American Holstein cattle
spellingShingle Genome-wide association and functional genomic analyses for udder conformation traits derived from data recorded by robotic milking systems in American Holstein cattle
Medeiros, Gabriel C.
Genética
Producción animal
Dairy cattle
Functional enrichment
GWAS
Quantitative trait loci
Milking robots
3104 Producción Animal
3109.02 Genética
title_short Genome-wide association and functional genomic analyses for udder conformation traits derived from data recorded by robotic milking systems in American Holstein cattle
title_full Genome-wide association and functional genomic analyses for udder conformation traits derived from data recorded by robotic milking systems in American Holstein cattle
title_fullStr Genome-wide association and functional genomic analyses for udder conformation traits derived from data recorded by robotic milking systems in American Holstein cattle
title_full_unstemmed Genome-wide association and functional genomic analyses for udder conformation traits derived from data recorded by robotic milking systems in American Holstein cattle
title_sort Genome-wide association and functional genomic analyses for udder conformation traits derived from data recorded by robotic milking systems in American Holstein cattle
dc.creator.none.fl_str_mv Medeiros, Gabriel C.
Ferraz, Jose Bento S.
Sousa, Luis Paulo B.
Chen, Shi-Yi
Suárez Vega, Aroa
Pedrosa, Victor B.
Rojas de Oliveira, Hinayah
Brito, Luiz
author Medeiros, Gabriel C.
author_facet Medeiros, Gabriel C.
Ferraz, Jose Bento S.
Sousa, Luis Paulo B.
Chen, Shi-Yi
Suárez Vega, Aroa
Pedrosa, Victor B.
Rojas de Oliveira, Hinayah
Brito, Luiz
author_role author
author2 Ferraz, Jose Bento S.
Sousa, Luis Paulo B.
Chen, Shi-Yi
Suárez Vega, Aroa
Pedrosa, Victor B.
Rojas de Oliveira, Hinayah
Brito, Luiz
author2_role author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Producción Animal
Facultad de Veterinaria
dc.subject.none.fl_str_mv Genética
Producción animal
Dairy cattle
Functional enrichment
GWAS
Quantitative trait loci
Milking robots
3104 Producción Animal
3109.02 Genética
topic Genética
Producción animal
Dairy cattle
Functional enrichment
GWAS
Quantitative trait loci
Milking robots
3104 Producción Animal
3109.02 Genética
description [EN] The implementation of automatic milking systems (AMS) in modern dairy farming has significantly facilitated genetic evaluation of udder conformation traits in dairy cattle. As AMS-based udder conformation traits are highly heritable in Holstein cattle, this study aimed to identify genomic regions, QTL, and genes significantly associated with 3 udder conformation traits derived from Cartesian coordinates recorded by AMS in American Holstein cows. The traits evaluated included udder depth (UD), udder balance (UB), and distance front-rear (DFR). Phenotypic data consisted of 4,232,026 visit records to 36 Lely Astronaut A5 AMS robots for 4,280 American Holstein cows. A total of 4,118 cows also had genomic information for 57,598 SNPs. The SNP effects, together with their approximate P-values and proportion of the total additive genetic variance explained by them, were back solved from the GEBV using the POSTGSF90 software (version 2024-12-26, BLUPF90 Family of Programs, University of Georgia, Athens, GA). Multiple testing correction was applied using a modified Bonferroni method based on the number of independent chromosomal segments, and functional enrichment analyses were performed for the candidate positional genes and QTL. We identified 5 (BTA4, BTA22, and BTA29), 15 (BTA2, BTA8, BTA9, BTA15, BTA18, BTA23, and BTA26), and 19 (BTA1, BTA4, BTA6, BTA9, BTA10, BTA14, BTA17, BTA18, BTA23, and BTA25) genome-wide SNPs significantly associated with UB, DFR, and UD, respectively. There were no significant SNPs capturing more than 0.5% of the total additive genetic variance, highlighting the highly polygenic nature of these traits. The candidate genes overlapping with these genomic regions were previously reported to have biological functions that included but were not limited to transcription regulation, DNA repair mechanisms, inflammatory responses, epithelial differentiation processes, nutrient transport, extracellular matrix stabilization, cell division, and immune regulation. The strongest candidate genes associated with udder conformation traits are AFM, AFP, CREBBP, NLRP12, SP3, EBF2, B4GALT1, HDAC9, CDK13, and KDM2A. Furthermore, many QTL known to be associated with various milk production, reproduction, and health traits overlapped with the significant SNPs identified in this study. In summary, we identified significant genetic markers, candidate genes, and genomic regions associated with these traits, offering insights into the genetic architecture underlying udder conformation in Holstein cattle and its implications for dairy production
publishDate 2025
dc.date.none.fl_str_mv 2025
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://www.sciencedirect.com/science/article/pii/S0022030225008124?via%3Dihub
https://hdl.handle.net/10612/28187
url https://www.sciencedirect.com/science/article/pii/S0022030225008124?via%3Dihub
https://hdl.handle.net/10612/28187
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.rights.none.fl_str_mv http://creativecommons.org/licenses/by-nc-nd/4.0/
info:eu-repo/semantics/openAccess
rights_invalid_str_mv http://creativecommons.org/licenses/by-nc-nd/4.0/
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv Elsevier
publisher.none.fl_str_mv Elsevier
dc.source.none.fl_str_mv reponame:BULERIA. Repositorio Institucional de la Universidad de León
instname:Universidad de León
instname_str Universidad de León
reponame_str BULERIA. Repositorio Institucional de la Universidad de León
collection BULERIA. Repositorio Institucional de la Universidad de León
repository.name.fl_str_mv
repository.mail.fl_str_mv
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spelling Genome-wide association and functional genomic analyses for udder conformation traits derived from data recorded by robotic milking systems in American Holstein cattleMedeiros, Gabriel C.Ferraz, Jose Bento S.Sousa, Luis Paulo B.Chen, Shi-YiSuárez Vega, AroaPedrosa, Victor B.Rojas de Oliveira, HinayahBrito, LuizGenéticaProducción animalDairy cattleFunctional enrichmentGWASQuantitative trait lociMilking robots3104 Producción Animal3109.02 Genética[EN] The implementation of automatic milking systems (AMS) in modern dairy farming has significantly facilitated genetic evaluation of udder conformation traits in dairy cattle. As AMS-based udder conformation traits are highly heritable in Holstein cattle, this study aimed to identify genomic regions, QTL, and genes significantly associated with 3 udder conformation traits derived from Cartesian coordinates recorded by AMS in American Holstein cows. The traits evaluated included udder depth (UD), udder balance (UB), and distance front-rear (DFR). Phenotypic data consisted of 4,232,026 visit records to 36 Lely Astronaut A5 AMS robots for 4,280 American Holstein cows. A total of 4,118 cows also had genomic information for 57,598 SNPs. The SNP effects, together with their approximate P-values and proportion of the total additive genetic variance explained by them, were back solved from the GEBV using the POSTGSF90 software (version 2024-12-26, BLUPF90 Family of Programs, University of Georgia, Athens, GA). Multiple testing correction was applied using a modified Bonferroni method based on the number of independent chromosomal segments, and functional enrichment analyses were performed for the candidate positional genes and QTL. We identified 5 (BTA4, BTA22, and BTA29), 15 (BTA2, BTA8, BTA9, BTA15, BTA18, BTA23, and BTA26), and 19 (BTA1, BTA4, BTA6, BTA9, BTA10, BTA14, BTA17, BTA18, BTA23, and BTA25) genome-wide SNPs significantly associated with UB, DFR, and UD, respectively. There were no significant SNPs capturing more than 0.5% of the total additive genetic variance, highlighting the highly polygenic nature of these traits. The candidate genes overlapping with these genomic regions were previously reported to have biological functions that included but were not limited to transcription regulation, DNA repair mechanisms, inflammatory responses, epithelial differentiation processes, nutrient transport, extracellular matrix stabilization, cell division, and immune regulation. The strongest candidate genes associated with udder conformation traits are AFM, AFP, CREBBP, NLRP12, SP3, EBF2, B4GALT1, HDAC9, CDK13, and KDM2A. Furthermore, many QTL known to be associated with various milk production, reproduction, and health traits overlapped with the significant SNPs identified in this study. In summary, we identified significant genetic markers, candidate genes, and genomic regions associated with these traits, offering insights into the genetic architecture underlying udder conformation in Holstein cattle and its implications for dairy productionSIThis research was funded by the Agriculture and Food Research Initiative Competitive Grant number 202267021-37022 from the USDA National Institute of Food and Agriculture. The first author was financially supported by the São Paulo Research Foundation (Fundação de Amparo à Pesquisa do Estado de São Paulo—FAPESP) through the grant: 2024/20474-1. We are very grateful for the support received from the Purdue College of Agriculture and Purdue Ag Data Services for supporting the development of the Purdue Animal Sciences Data Ecosystem (PASDE; Boerman et al., 2025), which is a platform for automatically gathering, integrating, and storing large-scale datasets from precision dairy farms to be used for this type of research. The authors thank Homestead Dairy, LLC (Plymouth, IN) and especially Brian and Jill Houin for inviting us on their farm and for allowing our research group to use their farm records. We also thank Lely (Maassluis, the Netherlands) for giving us access to their system for extracting the datasets. Supplemental material for this article is available at https: / / doi .org/ 10 .6084/ m9 .figshare .28967747. No human or animal subjects were used, so this analysis did not require approval by an Institutional Animal Care and Use Committee or Institutional Review Board. The authors have not stated any conflicts of interestElsevierProducción AnimalFacultad de Veterinaria2025info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttps://www.sciencedirect.com/science/article/pii/S0022030225008124?via%3Dihubhttps://hdl.handle.net/10612/28187reponame:BULERIA. Repositorio Institucional de la Universidad de Leóninstname:Universidad de LeónIngléshttp://creativecommons.org/licenses/by-nc-nd/4.0/info:eu-repo/semantics/openAccessoai:dnet:buleria_____::63d6546f0eaf7532d80c8fe62377fedb2026-06-24T12:43:27Z
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