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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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Embrapa Suínos e Aves (CNPSA) |
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| Registros recuperados : 44 | |
| 5. |  | RITTERBUSCH, G. A.; ZANELLA, E. L.; VIANCELLI, A.; SIMON, N.; DAHMER, A.; CIACCI-ZANELLA, J. R. Análise da morfologia espermática e detecção de PCV2 em amostras de sêmen de reprodutores suínos. In: CONGRESSO BRASILEIRO DE VETERINÁRIOS ESPECIALISTAS EM SUÍNOS, 13., 2007, Florianópolis. Anais... Concórdia: Embrapa Suínos e Aves, 2007. 1 CD-ROM. Projeto n. 10.06.21.032-01.| Tipo: Artigo em Anais de Congresso / Nota Técnica | Circulação/Nível: -- - -- |
| Biblioteca(s): Embrapa Suínos e Aves. |
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| 8. | | ZANELLA, E. L.; LEDUR, M. C.; SCHMIDT, G. S.; JAENISCH, F. R. F.; COUTINHO, L. L. Development of a new reference population for QTL detection in poultry. In: ANNUAL MEETING, 89., 2000, Montreal, Canadá. Abstracts... Montreal: PSA, 2000. p. 61| Biblioteca(s): Embrapa Suínos e Aves. |
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| 13. | | ZANELLA, J. R. C.; ZANELLA, E. L.; MORÉS, N.; SIMON, N.; ASCOLI, K.; RITTERBUSCH, G.; DAHMER, A.; GAVA, D. Absence of apoptosis and cellular changes in the reproductive system of boars naturally infected with porcine circovirus 2 (PCV2). In: INTERNATIONAL PIG VETERINARY SOCIETY, 20., 2008, Durban, South Africa. Proceedings. Durban: IPVS, 2008. p. 23 Projeto/Plano de Ação: 03.07.51.900-07.| Tipo: Resumo em Anais de Congresso |
| Biblioteca(s): Embrapa Suínos e Aves. |
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| 14. | | ZANELLA, J. R. C.; ZANELLA, E. L.; LOCATELLI, M. L.; BRAMBATTI, J. L.; SIMON, N. L.; COLDEBELLA, M. Detection of porcine circovírus 2 in semen collected from naturaly infected boars studs in Brazil. In: INTERNATIONAL SYMPOSIUM ON EMERGING AND RE-EMERGING PIG DISEASES, 5., 2007, Krakow. Proceedings... Krakow: [s.n.], 2007. p. 94 Projeto: 03.04.33.800| Tipo: Artigo em Anais de Congresso / Nota Técnica |
| Biblioteca(s): Embrapa Suínos e Aves. |
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| 15. | | ZANELLA, R.; ZANELLA, E. L.; REEVES, J. J.; HERNANDEZ, J.; MOTTA, A. C. da; AVILA, D. de. Características testiculares de touros imunizados com vacina anti-hormônio liberador do hormônio luteinizante. Pesquisa Agropecuária Brasileira, Brasília, DF, v. 44, n. 10, p. 1359-1363, out. 2009. Título em inglês: Testicular characteristics of bulls immunosterilized with anti-luteinizing hormone-releasing hormone vaccine.| Biblioteca(s): Embrapa Unidades Centrais. |
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| 17. | | ALBRING, D. C.; SUPERTI, B. F. V.; SOUZA, A. P.; ZANELLA, E. L.; ZANELLA, R.; MARQUES, M. G. Effect of different melatonin concentration in integrity of acrosomal membrane in swine sperm cryopreserved. In: ANNUAL MEETING OF THE BRAZILIAN EMBRYO TECHNOLOGY SOCIETY (SBTE), 30., 2016, Foz do Iguaçu; MEETING OF THE EUROPEAN EMBRYO TRANSFER ASSOCIATION (AETE), 32., 2016, Barcelona. Proceedings... Animal Reproduction., v.13, n.3, p. 554, Jul./Sept. 2016. A180. 1 CD-Rom.| Tipo: Resumo em Anais de Congresso |
| Biblioteca(s): Embrapa Suínos e Aves. |
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| 20. | | CONSALTER, A.; SILVA, A. P. da; GAIA, V. G.; ZANELLA, E. L.; SOUZA, G. N. de; FERREIRA, A. M. R. Seroprevalence and risk factors associated with Neospora caninum in commercial sheep from northwest of Rio Grande do Sul, Brazil. Semina. Ciências Agrárias, v. 41, n. 2, p. 705-710, mar./abr. 2020.| Tipo: Artigo em Periódico Indexado | Circulação/Nível: B - 1 |
| Biblioteca(s): Embrapa Gado de Leite. |
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| Registros recuperados : 44 | |
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| Nenhum registro encontrado para a expressão de busca informada. |
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