Effect of genomic regions harboring putative lethal haplotypes on reproductive performance in closed experimental selection lines of Nellore cattle

Abstract Lethal alleles are mutations in the genome that cause embryonic losses in affected homozygous embryos and, therefore, can negatively influence reproduction rates in commercial populations. Thus, this study aimed to identify genomic regions containing potential lethal haplotypes in Nellore b...

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Main Authors: Gustavo R. D. Rodrigues, Joslaine N. S. G. Cyrillo, Lúcio F. M. Mota, Patrícia I. Schmidt, Júlia P. S. Valente, Eduarda S. Oliveira, Lúcia G. Albuquerque, Luiz F. Brito, Maria E. Z. Mercadante
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Language:English
Published: Nature Portfolio 2025-02-01
Series:Scientific Reports
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Online Access:https://doi.org/10.1038/s41598-025-88501-7
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author Gustavo R. D. Rodrigues
Joslaine N. S. G. Cyrillo
Lúcio F. M. Mota
Patrícia I. Schmidt
Júlia P. S. Valente
Eduarda S. Oliveira
Lúcia G. Albuquerque
Luiz F. Brito
Maria E. Z. Mercadante
author_facet Gustavo R. D. Rodrigues
Joslaine N. S. G. Cyrillo
Lúcio F. M. Mota
Patrícia I. Schmidt
Júlia P. S. Valente
Eduarda S. Oliveira
Lúcia G. Albuquerque
Luiz F. Brito
Maria E. Z. Mercadante
author_sort Gustavo R. D. Rodrigues
collection DOAJ
description Abstract Lethal alleles are mutations in the genome that cause embryonic losses in affected homozygous embryos and, therefore, can negatively influence reproduction rates in commercial populations. Thus, this study aimed to identify genomic regions containing potential lethal haplotypes in Nellore breed; identify candidate genes located within these regions; and investigate the reproductive performance of heterozygous carriers of lethal haplotypes in Nellore cattle. Forty-five genomic regions harboring putative lethal haplotypes were identified, which overlap with 360 genes. Gene ontology analyses of these genes revealed biological processes associated with the development of sexual traits in males and females, key functions of the immune system, energy homeostasis, and embryonic development. The gene networks were involved in metabolic pathways including ovarian steroidogenesis, oocyte meiosis, and insulin secretion. Matings between carrier dam and carrier sire led to a reduction of up to -203.46% in pregnancy success probability, an increase of 275.15% in probability of pregnancy loss, 295.03% for stillbirth occurrence, and 301.40% for pre-weaning mortality when compared to non-carrier dam and sire matings. The results highlight the importance of identifying animals that are carriers of lethal haplotypes to avoid the propagation of these haplotypes in the population.
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spelling doaj-art-189a38daeaef4633829e5ddef17d55b32025-02-09T12:35:06ZengNature PortfolioScientific Reports2045-23222025-02-0115111510.1038/s41598-025-88501-7Effect of genomic regions harboring putative lethal haplotypes on reproductive performance in closed experimental selection lines of Nellore cattleGustavo R. D. Rodrigues0Joslaine N. S. G. Cyrillo1Lúcio F. M. Mota2Patrícia I. Schmidt3Júlia P. S. Valente4Eduarda S. Oliveira5Lúcia G. Albuquerque6Luiz F. Brito7Maria E. Z. Mercadante8School of Agriculture and Veterinary Science, São Paulo State UniversityInstitute of Animal Science, Beef Cattle Research CenterSchool of Agriculture and Veterinary Science, São Paulo State UniversitySchool of Agriculture and Veterinary Science, São Paulo State UniversitySchool of Agriculture and Veterinary Science, São Paulo State UniversitySchool of Agriculture and Veterinary Science, São Paulo State UniversitySchool of Agriculture and Veterinary Science, São Paulo State UniversityDepartment of Animal Sciences, Purdue UniversitySchool of Agriculture and Veterinary Science, São Paulo State UniversityAbstract Lethal alleles are mutations in the genome that cause embryonic losses in affected homozygous embryos and, therefore, can negatively influence reproduction rates in commercial populations. Thus, this study aimed to identify genomic regions containing potential lethal haplotypes in Nellore breed; identify candidate genes located within these regions; and investigate the reproductive performance of heterozygous carriers of lethal haplotypes in Nellore cattle. Forty-five genomic regions harboring putative lethal haplotypes were identified, which overlap with 360 genes. Gene ontology analyses of these genes revealed biological processes associated with the development of sexual traits in males and females, key functions of the immune system, energy homeostasis, and embryonic development. The gene networks were involved in metabolic pathways including ovarian steroidogenesis, oocyte meiosis, and insulin secretion. Matings between carrier dam and carrier sire led to a reduction of up to -203.46% in pregnancy success probability, an increase of 275.15% in probability of pregnancy loss, 295.03% for stillbirth occurrence, and 301.40% for pre-weaning mortality when compared to non-carrier dam and sire matings. The results highlight the importance of identifying animals that are carriers of lethal haplotypes to avoid the propagation of these haplotypes in the population.https://doi.org/10.1038/s41598-025-88501-7Pregnancy successRecessive allelesStillbirthZebu cattle
spellingShingle Gustavo R. D. Rodrigues
Joslaine N. S. G. Cyrillo
Lúcio F. M. Mota
Patrícia I. Schmidt
Júlia P. S. Valente
Eduarda S. Oliveira
Lúcia G. Albuquerque
Luiz F. Brito
Maria E. Z. Mercadante
Effect of genomic regions harboring putative lethal haplotypes on reproductive performance in closed experimental selection lines of Nellore cattle
Scientific Reports
Pregnancy success
Recessive alleles
Stillbirth
Zebu cattle
title Effect of genomic regions harboring putative lethal haplotypes on reproductive performance in closed experimental selection lines of Nellore cattle
title_full Effect of genomic regions harboring putative lethal haplotypes on reproductive performance in closed experimental selection lines of Nellore cattle
title_fullStr Effect of genomic regions harboring putative lethal haplotypes on reproductive performance in closed experimental selection lines of Nellore cattle
title_full_unstemmed Effect of genomic regions harboring putative lethal haplotypes on reproductive performance in closed experimental selection lines of Nellore cattle
title_short Effect of genomic regions harboring putative lethal haplotypes on reproductive performance in closed experimental selection lines of Nellore cattle
title_sort effect of genomic regions harboring putative lethal haplotypes on reproductive performance in closed experimental selection lines of nellore cattle
topic Pregnancy success
Recessive alleles
Stillbirth
Zebu cattle
url https://doi.org/10.1038/s41598-025-88501-7
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