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 | Acesso ao texto completo restrito à biblioteca da Embrapa Pecuária Sudeste. Para informações adicionais entre em contato com cppse.biblioteca@embrapa.br. |
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Registro Completo |
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Biblioteca(s): |
Embrapa Pecuária Sudeste. |
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Data corrente: |
01/02/2018 |
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Data da última atualização: |
07/11/2018 |
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Tipo da produção científica: |
Artigo em Periódico Indexado |
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Autoria: |
GEISTLINGER, L.; SILVA, V. H. da; CESAR, A. S. M.; TIZIOTO, P. C.; WALDRON, L.; ZIMMER, R.; REGITANO, L. C. de A.; COUTINHO, L. L. |
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Afiliação: |
Ludwig Geistlinger, Bolsista/Embrapa Pecuária Sudeste; Vinicius Henrique da Silva, ESALQ/USP; Aline Silva Mello Cesar, ESALQ/USP; Polyana Cristine Tizioto, ESALQ/USP; Levi Waldron, University of New York; Ralf Zimmer, Ludwig Maximilians Universität München; LUCIANA CORREIA DE ALMEIDA REGITANO, CPPSE; Luiz Lehmann Coutinho, ESALQ/USP. |
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Título: |
Widespread modulation of gene expression by copy number variation in skeletal muscle. |
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Ano de publicação: |
2018 |
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Fonte/Imprenta: |
Scientific Reports, v. 8, n. 1399, p. 1-11, jan. 2018. |
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DOI: |
10.1038/s41598-018-19782-4 |
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Idioma: |
Inglês |
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Conteúdo: |
Copy number variation (CNV) is a frequently observed deviation from the diploid state due to duplication or deletion of genomic regions. Although intensively analyzed for association with diseases and production traits, the specific mechanisms and extent by which such variations affect the phenotype are incompletely understood. We present an integrative study on CNV and genome-wide gene expression in Brazilian Bos indicus cattle. We analyzed CNVs inferred from SNP-chip data for effects on gene expression measured with RNA-seq in skeletal muscle samples of 183 steers. Local effects, where expression changes coincided with CNVs in the respective genes, were restricted to immune genes. Distal effects were attributable to several high-impact CNVs that modulated remote expression in an orchestrated and intertwined fashion. These CNVs were located in the vicinity of major skeletal muscle pathway regulators and associated genes were enriched for proteolysis, autophagy, and muscle structure development. From association analysis between CNVs and several meat quality and production traits, we found CNV-associated expression effects to also manifest at the phenotype level. Based on genome sequences of the population founders, we further demonstrate that CNVs with impact on expression and phenotype are passed on from one generation to another. |
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Palavras-Chave: |
Agricultural genetics; Nellore cattle. |
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Thesaurus Nal: |
gene expression. |
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Categoria do assunto: |
G Melhoramento Genético |
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Marc: |
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001 2086932
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024 7 $a10.1038/s41598-018-19782-4$2DOI
100 1 $aGEISTLINGER, L.
245 $aWidespread modulation of gene expression by copy number variation in skeletal muscle.$h[electronic resource]
260 $c2018
520 $aCopy number variation (CNV) is a frequently observed deviation from the diploid state due to duplication or deletion of genomic regions. Although intensively analyzed for association with diseases and production traits, the specific mechanisms and extent by which such variations affect the phenotype are incompletely understood. We present an integrative study on CNV and genome-wide gene expression in Brazilian Bos indicus cattle. We analyzed CNVs inferred from SNP-chip data for effects on gene expression measured with RNA-seq in skeletal muscle samples of 183 steers. Local effects, where expression changes coincided with CNVs in the respective genes, were restricted to immune genes. Distal effects were attributable to several high-impact CNVs that modulated remote expression in an orchestrated and intertwined fashion. These CNVs were located in the vicinity of major skeletal muscle pathway regulators and associated genes were enriched for proteolysis, autophagy, and muscle structure development. From association analysis between CNVs and several meat quality and production traits, we found CNV-associated expression effects to also manifest at the phenotype level. Based on genome sequences of the population founders, we further demonstrate that CNVs with impact on expression and phenotype are passed on from one generation to another.
650 $agene expression
653 $aAgricultural genetics
653 $aNellore cattle
700 1 $aSILVA, V. H. da
700 1 $aCESAR, A. S. M.
700 1 $aTIZIOTO, P. C.
700 1 $aWALDRON, L.
700 1 $aZIMMER, R.
700 1 $aREGITANO, L. C. de A.
700 1 $aCOUTINHO, L. L.
773 $tScientific Reports$gv. 8, n. 1399, p. 1-11, jan. 2018.
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Embrapa Pecuária Sudeste (CPPSE) |
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| 1. |  | GEISTLINGER, L.; SILVA, V. H. da; CESAR, A. S. M.; TIZIOTO, P. C.; WALDRON, L.; ZIMMER, R.; REGITANO, L. C. de A.; COUTINHO, L. L. Widespread modulation of gene expression by copy number variation in skeletal muscle. Scientific Reports, v. 8, n. 1399, p. 1-11, jan. 2018.| Tipo: Artigo em Periódico Indexado | Circulação/Nível: A - 1 |
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