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Registro Completo |
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Biblioteca(s): |
Embrapa Gado de Leite; Embrapa Suínos e Aves. |
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Data corrente: |
09/03/2023 |
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Data da última atualização: |
09/03/2023 |
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Tipo da produção científica: |
Artigo em Periódico Indexado |
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Autoria: |
SILVA, A. N. da; IBELLI, A. M. G.; SAVOLDI, I. R.; CANTAO, M. E.; ZANELLA, E. L.; MARQUES, M. G.; SILVA, M. V. G. B.; PEIXOTO, J. de O.; LEDUR, M. C.; LOPES, J. S.; VARGAS, J. E.; ZANELLA, R. |
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Afiliação: |
ARTHUR NERY DA SILVA, Universidade de Passo Fundo; ADRIANA MERCIA GUARATINI IBELLI, CNPSA; IGOR RICARDO SAVOLDI, Universidade do Contestado/Concórdia; MAURICIO EGIDIO CANTAO, CNPSA; ERALDO LOURENSO ZANELLA, UNIVERSIDADE; MARIANA GROKE MARQUES, CNPSA; MARCOS VINICIUS GUALBERTO B SILVA, CNPGL; JANE DE OLIVEIRA PEIXOTO, CNPSA; MONICA CORREA LEDUR, CNPSA; JADER SILVA LOPES, BRF/Curitiba; JOSÉ EDUARDO VARGAS, Universidade Federal do Paraná; RICARDO ZANELLA, Universidade de Passo Fundo. |
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Título: |
Whole-exome sequencing indicated new candidate genes associated with unilateral cryptorchidism in pigs. |
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Ano de publicação: |
2023 |
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Fonte/Imprenta: |
Sexual Development, 9 Feb 2023. |
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DOI: |
10.1159/000528360 |
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Idioma: |
Inglês |
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Conteúdo: |
Abstract:
Introduction: Cryptorchidism is a hereditary anomaly characterized by the incomplete descent of one or both testicles to the scrotum. One of the challenges of this anomaly is that the retained testicle maintains its endocrine function. As a consequence, cryptorchid animals produce hormone-tainted meat in comparison to castrated animals and are likely to be more aggressive. Cryptorchidism can lead to reduced animal welfare outcomes and cause economic losses. Identifying genetic markers for cryptorchidism is an essential step toward mitigating these negative outcomes and may facilitate genome manipulation to reduce the occurrence of cryptorchidism. Attempts to identify such markers have used genome-wide association studies. Using whole-exome sequencing, we aimed to identify single nucleotide polymorphisms (SNPs) in the coding regions of cryptorchid pigs and to characterize functional pathways concerning these SNPs.
Methods: DNA was extracted and sequenced from 5 healthy and 5 cryptorchid animals from the Landrace breed, using the Illumina HiSeq 2500 platform. Data were pre-processed using the SeqyClean tool and further mapped against the swine reference genome (Sus scrofa 11.1) using BWA software. GATK was used to identify polymorphisms (SNPs and InDels), which were annotated using the VEP tool. Network prediction and gene ontology enrichment analysis were conducted using the Cytoscape platform, and STRING software was used for visualization.
Results: A total of 63 SNPs were identified across the genes PIGB, CCPG1, COMMD9, LDLRAD3, TRIM44, MYLPF, SEPTIN, ZNF48, TIA1, FAIM2, KRT18, FBP1, FBP2, CTSL, DAPK1, DHX8, GPR179, DEPDC1B, ENSSSCG00000049573, ENSSSCG00000016384, ENSSSCG00000022657, ENSSSCG00000038825, and ENSSSCG00000001229. Using pathway enrichment analyses and network prospection, we have identified the following significant adjusted p value threshold of 0.001 involved with the biological function pathways of estrogen signaling, cytoskeleton organization, and the pentose phosphate pathway.
Conclusion: Our data suggest the involvement of new SNPs and genes in developing cryptorchidism in pigs. However, further studies are needed to validate our results in a larger cohort population. Variations in the GPR179 gene, with implications at the protein level, may be associated with the appearance of this anomaly in the swine. Finally, we are showing that the estrogen signaling pathway may be involved in the pathophysiological mechanisms of this congenital anomaly as previously reported in GWAS. MenosAbstract:
Introduction: Cryptorchidism is a hereditary anomaly characterized by the incomplete descent of one or both testicles to the scrotum. One of the challenges of this anomaly is that the retained testicle maintains its endocrine function. As a consequence, cryptorchid animals produce hormone-tainted meat in comparison to castrated animals and are likely to be more aggressive. Cryptorchidism can lead to reduced animal welfare outcomes and cause economic losses. Identifying genetic markers for cryptorchidism is an essential step toward mitigating these negative outcomes and may facilitate genome manipulation to reduce the occurrence of cryptorchidism. Attempts to identify such markers have used genome-wide association studies. Using whole-exome sequencing, we aimed to identify single nucleotide polymorphisms (SNPs) in the coding regions of cryptorchid pigs and to characterize functional pathways concerning these SNPs.
Methods: DNA was extracted and sequenced from 5 healthy and 5 cryptorchid animals from the Landrace breed, using the Illumina HiSeq 2500 platform. Data were pre-processed using the SeqyClean tool and further mapped against the swine reference genome (Sus scrofa 11.1) using BWA software. GATK was used to identify polymorphisms (SNPs and InDels), which were annotated using the VEP tool. Network prediction and gene ontology enrichment analysis were conducted using the Cytoscape platform, and STRING software was used for visualization.
Results: A total of 63 ... Mostrar Tudo |
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Palavras-Chave: |
Criptorquidismo; Sequenciamento completo do exoma; Whole-Exome Sequencing. |
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Thesagro: |
Gene Marcador; Genética Animal; Marcador Genético; Porco; Suíno. |
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Thesaurus Nal: |
Cryptorchidism. |
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Categoria do assunto: |
-- |
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Marc: |
LEADER 03604naa a2200373 a 4500
001 2152220
005 2023-03-09
008 2023 bl uuuu u00u1 u #d
024 7 $a10.1159/000528360$2DOI
100 1 $aSILVA, A. N. da
245 $aWhole-exome sequencing indicated new candidate genes associated with unilateral cryptorchidism in pigs.$h[electronic resource]
260 $c2023
520 $aAbstract: Introduction: Cryptorchidism is a hereditary anomaly characterized by the incomplete descent of one or both testicles to the scrotum. One of the challenges of this anomaly is that the retained testicle maintains its endocrine function. As a consequence, cryptorchid animals produce hormone-tainted meat in comparison to castrated animals and are likely to be more aggressive. Cryptorchidism can lead to reduced animal welfare outcomes and cause economic losses. Identifying genetic markers for cryptorchidism is an essential step toward mitigating these negative outcomes and may facilitate genome manipulation to reduce the occurrence of cryptorchidism. Attempts to identify such markers have used genome-wide association studies. Using whole-exome sequencing, we aimed to identify single nucleotide polymorphisms (SNPs) in the coding regions of cryptorchid pigs and to characterize functional pathways concerning these SNPs. Methods: DNA was extracted and sequenced from 5 healthy and 5 cryptorchid animals from the Landrace breed, using the Illumina HiSeq 2500 platform. Data were pre-processed using the SeqyClean tool and further mapped against the swine reference genome (Sus scrofa 11.1) using BWA software. GATK was used to identify polymorphisms (SNPs and InDels), which were annotated using the VEP tool. Network prediction and gene ontology enrichment analysis were conducted using the Cytoscape platform, and STRING software was used for visualization. Results: A total of 63 SNPs were identified across the genes PIGB, CCPG1, COMMD9, LDLRAD3, TRIM44, MYLPF, SEPTIN, ZNF48, TIA1, FAIM2, KRT18, FBP1, FBP2, CTSL, DAPK1, DHX8, GPR179, DEPDC1B, ENSSSCG00000049573, ENSSSCG00000016384, ENSSSCG00000022657, ENSSSCG00000038825, and ENSSSCG00000001229. Using pathway enrichment analyses and network prospection, we have identified the following significant adjusted p value threshold of 0.001 involved with the biological function pathways of estrogen signaling, cytoskeleton organization, and the pentose phosphate pathway. Conclusion: Our data suggest the involvement of new SNPs and genes in developing cryptorchidism in pigs. However, further studies are needed to validate our results in a larger cohort population. Variations in the GPR179 gene, with implications at the protein level, may be associated with the appearance of this anomaly in the swine. Finally, we are showing that the estrogen signaling pathway may be involved in the pathophysiological mechanisms of this congenital anomaly as previously reported in GWAS.
650 $aCryptorchidism
650 $aGene Marcador
650 $aGenética Animal
650 $aMarcador Genético
650 $aPorco
650 $aSuíno
653 $aCriptorquidismo
653 $aSequenciamento completo do exoma
653 $aWhole-Exome Sequencing
700 1 $aIBELLI, A. M. G.
700 1 $aSAVOLDI, I. R.
700 1 $aCANTAO, M. E.
700 1 $aZANELLA, E. L.
700 1 $aMARQUES, M. G.
700 1 $aSILVA, M. V. G. B.
700 1 $aPEIXOTO, J. de O.
700 1 $aLEDUR, M. C.
700 1 $aLOPES, J. S.
700 1 $aVARGAS, J. E.
700 1 $aZANELLA, R.
773 $tSexual Development, 9 Feb 2023.
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Registro original: |
Embrapa Suínos e Aves (CNPSA) |
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| Registros recuperados : 31 | |
| 21. |  | KOWACIC, R. da C.; IBELLI, A. M. G.; PEIXOTO, J. de O.; MORES, N.; MORES, M. A. Z.; CANTAO, M. E.; SAVOLDI, I. R.; CARMO, K. B. do; COUTINHO, L. L.; LEDUR, M. C. Genes Col16A1 e ANGPT4 são menos expressos em suínos afetados com osteocondrose latens. In: JORNADA DE INICIAÇÃO CIENTÍFICA, 10., 2016, Concórdia. Anais... Concórdia: Embrapa Suínos e Aves: UNC, 2017. p. 15-16. JINC.| Tipo: Artigo em Anais de Congresso |
| Biblioteca(s): Embrapa Suínos e Aves. |
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| 22. | | RODRIGUES, A. F. G.; IBELLI, A. M. G.; PEIXOTO, J. de O.; CANTAO, M. E.; OLIVEIRA, H. C. de; SAVOLDI, I. R.; SOUZA, M. R.; MORES, M. A. Z.; CARREÑO, L. O. D.; LEDUR, M. C. Genes and SNPs Involved with Scrotal and Umbilical Hernia in Pigs. Genes, v. 12, n. 166, 2021.| Tipo: Artigo em Periódico Indexado |
| Biblioteca(s): Embrapa Suínos e Aves. |
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| 23. | | SAVOLDI, I. R.; IBELLI, A. M. G.; CANTAO, M. E.; PEIXOTO, J. de O.; MORES, M. A. Z.; LAGOS, E. B.; LOPES, J. S.; ZANELLA, R.; LEDUR, M. C. A joint analysis using exome and transcriptome data identifiescandidate polymorphisms and genes involved with umbilical hernia in pigs. BMC Genomics, v. 22, n. 818, 2021.| Tipo: Artigo em Periódico Indexado | Circulação/Nível: A - 1 |
| Biblioteca(s): Embrapa Suínos e Aves. |
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| 24. | | LORENZETTI, W. R.; IBELLI, A. M. G.; PEIXOTO, J. de O.; MORES, M. A. Z.; SAVOLDI, I. R.; CARMO, K. B. do; OLIVEIRA, H. C. de; LEDUR, M. C. Identification of endogenous normalizing genes for expression studies in inguinal ring tissue for scrotal hernias in pigs. Plos One, v. 13, n.9, e0204348, 2018.| Tipo: Artigo em Periódico Indexado | Circulação/Nível: A - 1 |
| Biblioteca(s): Embrapa Suínos e Aves. |
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| 25. | | DAL PIZZOL, M. S.; IBELLI, A. M. G.; MORÉS, N.; MORES, M. A. Z.; PEIXOTO, J. de O.; SAVOLDI, I. R.; PERTILLE, F.; MARIANI, P. D. S. C.; COUTINHO, L. L.; LEDUR, M. C. Perfil de metilação diferencial no cromossomo 6 de suínos normais e afetados com osteocondrose latens. In: JORNADA DE INICIAÇÃO CIENTÍFICA, 13., 2019, Concórdia. Anais... Concórdia: Embrapa Suínos e Aves: UNC, 2019. p. 36-37. JINC 2019.| Tipo: Artigo em Anais de Congresso |
| Biblioteca(s): Embrapa Suínos e Aves. |
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| 26. | | DAL PIZZOL, M. S.; IBELLI, A. M. G.; SALMÓRIA, L. A.; MORES, M. A. Z.; PEIXOTO, J. de O.; SAVOLDI, I. R.; PERTILLE, F.; MARIANI, P. D. S. C.; COUTINHO, L. L.; LEDUR, M. C. Perfil de metilação diferencial em suínos normais e afetados com osteocondrose latens. In: SIMPÓSIO BRASILEIRO DE MELHORAMENTO ANIMAL ON-LINE, 14., 2021. Anais... Chapecó: UDESC: Concórdia: Embrapa Suínos e Aves, 2022.| Tipo: Resumo em Anais de Congresso |
| Biblioteca(s): Embrapa Suínos e Aves. |
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| 27. | | PEIXOTO, J. de O.; SAVOLDI, I. R.; IBELLI, A. M. G.; CANTAO, M. E.; JAENISCH, F. R. F.; GIACHETTO, P. F.; SETTLES, M. L.; ZANELLA, R.; MARCHESI, J. A. P.; PANDOLFI, J. R. C.; COUTINHO, L. L.; LEDUR, M. C. Proximal femoral head transcriptome reveals novel candidate genes related to epiphysiolysis in broiler chickens. BMC Genomics, v. 20, p. 1-17, 2019. Na publicação: José Rodrigo Pandolfi. Article number: 1031.| Tipo: Artigo em Periódico Indexado | Circulação/Nível: A - 1 |
| Biblioteca(s): Embrapa Agricultura Digital; Embrapa Suínos e Aves. |
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| 28. | | SILVA, A. N. da; IBELLI, A. M. G.; SAVOLDI, I. R.; CANTAO, M. E.; ZANELLA, E. L.; MARQUES, M. G.; SILVA, M. V. G. B.; PEIXOTO, J. de O.; LEDUR, M. C.; LOPES, J. S.; VARGAS, J. E.; ZANELLA, R. Whole-exome sequencing indicated new candidate genes associated with unilateral cryptorchidism in pigs. Sexual Development, 9 Feb 2023.| Tipo: Artigo em Periódico Indexado | Circulação/Nível: A - 3 |
| Biblioteca(s): Embrapa Gado de Leite; Embrapa Suínos e Aves. |
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| 29. | | SAVOLDI, I. R; DAL PIZZOL, M. S.; CARMO, K. B. do; IBELLI, A. M. G.; KRAMER, B.; MORES, M. A. Z.; PEIXOTO, J. de O.; CANTAO, M. E.; JAENISCH, F. R. F.; AVILA, V. S. de; KRABBE, E. L.; LEDUR, M. C.; PANDOLFI, J. R. C. Caracterização metagenômica do microbioma intestinal de aves de corte através do sequenciamento parcial do gene 16S-rRNA. In: JORNADA DE INICIAÇÃO CIENTÍFICA (JINC), 10., 2016, Concórdia. Anais... Brasília: Embrapa, 2016. p. 54-55.| Tipo: Artigo em Anais de Congresso |
| Biblioteca(s): Embrapa Suínos e Aves. |
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| 30. | | ROMANO, G. de S.; LORENZETTI, W. R.; IBELLI, A. M. G.; PEIXOTO, J. de O.; MORES, M. A. Z.; SAVOLDI, I. R.; CARMO, K. B. do; LOPES, J. S.; PEDROSA, V. B.; CANTAO, M. E.; COUTINHO, L. L.; LEDUR, M. C. The involvement of muscle-related genes in the occurrence of scrotal hernia in pigs. In: WORLD CONGRESS ON GENETICS APPLIED TO LIVESTOCK PRODUCTION, 11., 2018, Auckland, New Zealand. Proceedings... Massey University, 2018. Digital Archive.| Tipo: Artigo em Anais de Congresso |
| Biblioteca(s): Embrapa Suínos e Aves. |
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| 31. | | ROMANO, G. de S.; IBELLI, A. M. G.; PEIXOTO, J. de O.; MORES, N.; MORES, M. A. Z.; CANTAO, M. E.; RECH, R. R.; SAVOLDI, I. R.; CARMO, K. B. do; FIGUEIREDO, E. A. P. de; COUTINHO, L. L.; LEDUR, M. C. Identificação de mecanismos genéticos envolvidos na oesteocondrose latens em suínos. In: SIMPÓSIO BRASILEIRO DE MELHORAMENTO ANIMAL, 12., 2017, Ribeirão Preto. Anais... Ribeirão Preto: SBMA, 2017. 1 CD-ROM.| Tipo: Artigo em Anais de Congresso |
| Biblioteca(s): Embrapa Suínos e Aves. |
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| Registros recuperados : 31 | |
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