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1. | | DOMENE, S. M. Á.; AGOSTINI, K.; ALMEIDA, G. N. P. de; CAMARGO, R. G. M.; CARVALHO, A. M. de; CORRÊA, F. E.; DELBEM, A. C. B.; DOMINGOS, S. S.; DRUCKER, D. P.; MARCHIONI, D. M. L.; MARTINS, I. P.; MONTEDO, U. B.; RIBEIRO, E. M. S.; SANTIAGO, R. de A. C.; SILVA, R. F. da; SOARES, F. M.; STELUTI, J.; SARAIVA, A. M. Segurança alimentar: reflexões sobre um problema complexo. Estudos Avançados, v. 37, n. 109, p. 181-206, Sept./Dec. 2023. Biblioteca(s): Embrapa Agricultura Digital. |
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Registro Completo
Biblioteca(s): |
Embrapa Suínos e Aves. |
Data corrente: |
16/11/2021 |
Data da última atualização: |
16/11/2021 |
Tipo da produção científica: |
Artigo em Periódico Indexado |
Circulação/Nível: |
A - 1 |
Autoria: |
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. |
Afiliação: |
IGOR RICARDO SAVOLDI, UDESC/Chapecó; ADRIANA MERCIA GUARATINI IBELLI, CNPSA; MAURICIO EGIDIO CANTAO, CNPSA; JANE DE OLIVEIRA PEIXOTO, CNPSA; MARCOS ANTONIO ZANELLA MORES, CNPSA; ESSAMAI BRIZOLA LAGOS, UEPG; JADER SILVA LOPES, BRF/Curitiba; RICARDO ZANELLA, UPF; MONICA CORREA LEDUR, CNPSA. |
Título: |
A joint analysis using exome and transcriptome data identifiescandidate polymorphisms and genes involved with umbilical hernia in pigs. |
Ano de publicação: |
2021 |
Fonte/Imprenta: |
BMC Genomics, v. 22, n. 818, 2021. |
DOI: |
https://doi.org/10.1186/s12864-021-08138-4 |
Idioma: |
Inglês |
Conteúdo: |
Abstract: Background: Umbilical Hernia (UH) is characterized by the passage of part of the intestine through the umbilical canal forming the herniary sac. There are several potential causes that can lead to the umbilical hernia such as bacterial infections, management conditions and genetic factors. Since the genetic components involved with UH are poorly understood, this study aimed to identify polymorphisms and genes associated with the manifestation of umbilical hernia in pigs using exome and transcriptome sequencing in a case and control design. Results: In the exome sequencing, 119 variants located in 58 genes were identified differing between normal and UH-affected pigs, and in the umbilical ring transcriptome, 46 variants were identified, located in 27 genes. Comparing the two methodologies, we obtained 34 concordant variants between the exome and transcriptome analyses, which were located in 17 genes, distributed in 64 biological processes (BP). Among the BP involved with UH it is possible to highlight cell adhesion, cell junction regulation, embryonic morphogenesis, ion transport, muscle contraction, within others. Conclusions: We have generated the first exome sequencing related to normal and umbilical hernia-affected pigs, which allowed us to identify several variants possibly involved with this disorder. Many of those variants present in the DNA were confirmed with the RNA-Seq results. The combination of both exome and transcriptome sequencing approaches allowed us to better understand the complex molecular mechanisms underlying UH in pigs and possibly in other mammals, including humans. Some variants found in genes and other regulatory regions are highlighted as strong candidates to the development of UH in pigs and should be further investigated. MenosAbstract: Background: Umbilical Hernia (UH) is characterized by the passage of part of the intestine through the umbilical canal forming the herniary sac. There are several potential causes that can lead to the umbilical hernia such as bacterial infections, management conditions and genetic factors. Since the genetic components involved with UH are poorly understood, this study aimed to identify polymorphisms and genes associated with the manifestation of umbilical hernia in pigs using exome and transcriptome sequencing in a case and control design. Results: In the exome sequencing, 119 variants located in 58 genes were identified differing between normal and UH-affected pigs, and in the umbilical ring transcriptome, 46 variants were identified, located in 27 genes. Comparing the two methodologies, we obtained 34 concordant variants between the exome and transcriptome analyses, which were located in 17 genes, distributed in 64 biological processes (BP). Among the BP involved with UH it is possible to highlight cell adhesion, cell junction regulation, embryonic morphogenesis, ion transport, muscle contraction, within others. Conclusions: We have generated the first exome sequencing related to normal and umbilical hernia-affected pigs, which allowed us to identify several variants possibly involved with this disorder. Many of those variants present in the DNA were confirmed with the RNA-Seq results. The combination of both exome and transcriptome sequencing approaches allowed ... Mostrar Tudo |
Palavras-Chave: |
Defeitos congênitos; Hérnia umbilical; RNA sequencing; RNA-Seq; Sequenciamento de exoma; SNP. |
Thesagro: |
Abacate; Genética Animal; Suíno. |
Thesaurus NAL: |
Animal genetics; Sequence analysis; Single nucleotide polymorphism; Swine. |
Categoria do assunto: |
-- |
Marc: |
LEADER 02916naa a2200385 a 4500 001 2136149 005 2021-11-16 008 2021 bl uuuu u00u1 u #d 024 7 $ahttps://doi.org/10.1186/s12864-021-08138-4$2DOI 100 1 $aSAVOLDI, I. R. 245 $aA joint analysis using exome and transcriptome data identifiescandidate polymorphisms and genes involved with umbilical hernia in pigs.$h[electronic resource] 260 $c2021 520 $aAbstract: Background: Umbilical Hernia (UH) is characterized by the passage of part of the intestine through the umbilical canal forming the herniary sac. There are several potential causes that can lead to the umbilical hernia such as bacterial infections, management conditions and genetic factors. Since the genetic components involved with UH are poorly understood, this study aimed to identify polymorphisms and genes associated with the manifestation of umbilical hernia in pigs using exome and transcriptome sequencing in a case and control design. Results: In the exome sequencing, 119 variants located in 58 genes were identified differing between normal and UH-affected pigs, and in the umbilical ring transcriptome, 46 variants were identified, located in 27 genes. Comparing the two methodologies, we obtained 34 concordant variants between the exome and transcriptome analyses, which were located in 17 genes, distributed in 64 biological processes (BP). Among the BP involved with UH it is possible to highlight cell adhesion, cell junction regulation, embryonic morphogenesis, ion transport, muscle contraction, within others. Conclusions: We have generated the first exome sequencing related to normal and umbilical hernia-affected pigs, which allowed us to identify several variants possibly involved with this disorder. Many of those variants present in the DNA were confirmed with the RNA-Seq results. The combination of both exome and transcriptome sequencing approaches allowed us to better understand the complex molecular mechanisms underlying UH in pigs and possibly in other mammals, including humans. Some variants found in genes and other regulatory regions are highlighted as strong candidates to the development of UH in pigs and should be further investigated. 650 $aAnimal genetics 650 $aSequence analysis 650 $aSingle nucleotide polymorphism 650 $aSwine 650 $aAbacate 650 $aGenética Animal 650 $aSuíno 653 $aDefeitos congênitos 653 $aHérnia umbilical 653 $aRNA sequencing 653 $aRNA-Seq 653 $aSequenciamento de exoma 653 $aSNP 700 1 $aIBELLI, A. M. G. 700 1 $aCANTAO, M. E. 700 1 $aPEIXOTO, J. de O. 700 1 $aMORES, M. A. Z. 700 1 $aLAGOS, E. B. 700 1 $aLOPES, J. S. 700 1 $aZANELLA, R. 700 1 $aLEDUR, M. C. 773 $tBMC Genomics$gv. 22, n. 818, 2021.
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