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Registro Completo |
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Biblioteca(s): |
Embrapa Suínos e Aves. |
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Data corrente: |
16/11/2021 |
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Data da última atualização: |
16/11/2021 |
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Tipo da produção científica: |
Artigo em Periódico Indexado |
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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. |
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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. |
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Título: |
A joint analysis using exome and transcriptome data identifiescandidate polymorphisms and genes involved with umbilical hernia in pigs. |
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Ano de publicação: |
2021 |
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Fonte/Imprenta: |
BMC Genomics, v. 22, n. 818, 2021. |
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DOI: |
https://doi.org/10.1186/s12864-021-08138-4 |
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Idioma: |
Inglês |
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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 |
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Palavras-Chave: |
Defeitos congênitos; Hérnia umbilical; RNA sequencing; RNA-Seq; Sequenciamento de exoma; SNP. |
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Thesagro: |
Abacate; Genética Animal; Suíno. |
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Thesaurus Nal: |
Animal genetics; Sequence analysis; Single nucleotide polymorphism; Swine. |
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Categoria do assunto: |
-- |
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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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Embrapa Suínos e Aves (CNPSA) |
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Registro Completo
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Biblioteca(s): |
Embrapa Amazônia Oriental. |
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Data corrente: |
04/03/2011 |
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Data da última atualização: |
29/03/2011 |
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Tipo da produção científica: |
Artigo em Anais de Congresso |
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Autoria: |
SILVA, M. S. da C.; ALVES, R. M.; ALBUQUERQUE, P. S. B.; SILVA, C. R. de S. |
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Afiliação: |
MARIA SUELLEM DA CONCEIÇÃO SILVA, UFRA; RAFAEL MOYSES ALVES, CPATU; PAULO SERGIO BEVILAQUA ALBUQUERQUE, Pesquisador ERJOH, CEPLAC; CARLOS ROGÉRIO DE SOUSA SILVA, Pesquisador ERJOH, CEPLAC. |
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Título: |
Diversidade genética de acessos de cupuaçuzeiro (Theobroma grandiflorum) utilizando marcadores microssatélites. |
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Ano de publicação: |
2010 |
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Fonte/Imprenta: |
In: SEMINÁRIO DE INICIAÇÃO CIENTÍFICA DA EMBRAPA, 14., 2010, Belém, PA. Bolsista de iniciação científica: um aporte ao desenvolvimento da pesquisa agropecuária: anais. Belém, PA: Embrapa Amazônia Oriental, 2010. 1 CD-ROM. PIBIC 2010. |
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Idioma: |
Português |
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Thesagro: |
Cupuaçu; Melhoramento genético vegetal. |
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Categoria do assunto: |
-- |
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URL: |
https://ainfo.cnptia.embrapa.br/digital/bitstream/item/29136/1/MARIASUELLEMSILVA.pdf
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Marc: |
LEADER 00729nam a2200157 a 4500
001 1880101
005 2011-03-29
008 2010 bl uuuu u00u1 u #d
100 1 $aSILVA, M. S. da C.
245 $aDiversidade genética de acessos de cupuaçuzeiro (Theobroma grandiflorum) utilizando marcadores microssatélites.
260 $aIn: SEMINÁRIO DE INICIAÇÃO CIENTÍFICA DA EMBRAPA, 14., 2010, Belém, PA. Bolsista de iniciação científica: um aporte ao desenvolvimento da pesquisa agropecuária: anais. Belém, PA: Embrapa Amazônia Oriental, 2010. 1 CD-ROM. PIBIC 2010.$c2010
650 $aCupuaçu
650 $aMelhoramento genético vegetal
700 1 $aALVES, R. M.
700 1 $aALBUQUERQUE, P. S. B.
700 1 $aSILVA, C. R. de S.
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