Data supporting the co-expression of PDHA1 gene and of its paralogue PDHA2 in somatic cells of a family
Autor(a) principal: | |
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Data de Publicação: | 2016 |
Outros Autores: | , , , , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | http://hdl.handle.net/10400.18/3929 |
Resumo: | This article presents a dataset proving the simultaneous presence of a 5′UTR-truncated PDHA1 mRNA and a full-length PDHA2 mRNA in the somatic cells of a PDC-deficient female patient and all members of her immediate family (parents and brother). We have designed a large set of primer pairs in order to perform detailed RT-PCR assays allowing the clear identification of both PDHA1 and PDHA2 mRNA species in somatic cells. In addition, two different experimental approaches were used to elucidate the copy number of PDHA1 gene in the patient and her mother. The interpretation and discussion of these data, along with further extensive experiments concerning the origin of this altered gene expression and its potential therapeutic consequences, can be found in “Complex genetic findings in a female patient with pyruvate dehydrogenase complex deficiency: null mutations in the PDHX gene associated with unusual expression of the testis-specific PDHA2 gene in her somatic cells” (A. Pinheiro, M.J. Silva, C. Florindo, et al., 2016). |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Data supporting the co-expression of PDHA1 gene and of its paralogue PDHA2 in somatic cells of a familyPyruvate dehydrogenaseComplex Gene ExpressionTestis-specific GenePDHA1 geneDoenças GenéticasThis article presents a dataset proving the simultaneous presence of a 5′UTR-truncated PDHA1 mRNA and a full-length PDHA2 mRNA in the somatic cells of a PDC-deficient female patient and all members of her immediate family (parents and brother). We have designed a large set of primer pairs in order to perform detailed RT-PCR assays allowing the clear identification of both PDHA1 and PDHA2 mRNA species in somatic cells. In addition, two different experimental approaches were used to elucidate the copy number of PDHA1 gene in the patient and her mother. The interpretation and discussion of these data, along with further extensive experiments concerning the origin of this altered gene expression and its potential therapeutic consequences, can be found in “Complex genetic findings in a female patient with pyruvate dehydrogenase complex deficiency: null mutations in the PDHX gene associated with unusual expression of the testis-specific PDHA2 gene in her somatic cells” (A. Pinheiro, M.J. Silva, C. Florindo, et al., 2016).This study was supported in part by grants from Fundação para a Ciência e a Tecnologia, Portugal (FCT): SFRH/BD/31264/2006 awarded to Ana Pinheiro, POCI/SAU-MMO/57052/2004 awarded to Isabel Rivera, and PEst-OE/SAU/UI4013/2013.ElsevierRepositório Científico do Instituto Nacional de SaúdePinheiro, AnaSilva, Maria JoãoPavlu-Pereira, HanaFlorindo, CristinaBarroso, MadalenaMarques, BárbaraCorreia, HildebertoOliveira, AnabelaGaspare, AnaTavares de Almeida, IsabelIsabel Rivera, Isabel2020-08-21T00:30:11Z2016-08-202016-08-20T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.18/3929engData in Brief. 2016;9:68-77. doi:10.1016/j.dib.2016.08.0292352-340910.1016/j.dib.2016.08.029info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-07-20T15:40:06Zoai:repositorio.insa.pt:10400.18/3929Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T18:38:49.933880Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
dc.title.none.fl_str_mv |
Data supporting the co-expression of PDHA1 gene and of its paralogue PDHA2 in somatic cells of a family |
title |
Data supporting the co-expression of PDHA1 gene and of its paralogue PDHA2 in somatic cells of a family |
spellingShingle |
Data supporting the co-expression of PDHA1 gene and of its paralogue PDHA2 in somatic cells of a family Pinheiro, Ana Pyruvate dehydrogenase Complex Gene Expression Testis-specific Gene PDHA1 gene Doenças Genéticas |
title_short |
Data supporting the co-expression of PDHA1 gene and of its paralogue PDHA2 in somatic cells of a family |
title_full |
Data supporting the co-expression of PDHA1 gene and of its paralogue PDHA2 in somatic cells of a family |
title_fullStr |
Data supporting the co-expression of PDHA1 gene and of its paralogue PDHA2 in somatic cells of a family |
title_full_unstemmed |
Data supporting the co-expression of PDHA1 gene and of its paralogue PDHA2 in somatic cells of a family |
title_sort |
Data supporting the co-expression of PDHA1 gene and of its paralogue PDHA2 in somatic cells of a family |
author |
Pinheiro, Ana |
author_facet |
Pinheiro, Ana Silva, Maria João Pavlu-Pereira, Hana Florindo, Cristina Barroso, Madalena Marques, Bárbara Correia, Hildeberto Oliveira, Anabela Gaspare, Ana Tavares de Almeida, Isabel Isabel Rivera, Isabel |
author_role |
author |
author2 |
Silva, Maria João Pavlu-Pereira, Hana Florindo, Cristina Barroso, Madalena Marques, Bárbara Correia, Hildeberto Oliveira, Anabela Gaspare, Ana Tavares de Almeida, Isabel Isabel Rivera, Isabel |
author2_role |
author author author author author author author author author author |
dc.contributor.none.fl_str_mv |
Repositório Científico do Instituto Nacional de Saúde |
dc.contributor.author.fl_str_mv |
Pinheiro, Ana Silva, Maria João Pavlu-Pereira, Hana Florindo, Cristina Barroso, Madalena Marques, Bárbara Correia, Hildeberto Oliveira, Anabela Gaspare, Ana Tavares de Almeida, Isabel Isabel Rivera, Isabel |
dc.subject.por.fl_str_mv |
Pyruvate dehydrogenase Complex Gene Expression Testis-specific Gene PDHA1 gene Doenças Genéticas |
topic |
Pyruvate dehydrogenase Complex Gene Expression Testis-specific Gene PDHA1 gene Doenças Genéticas |
description |
This article presents a dataset proving the simultaneous presence of a 5′UTR-truncated PDHA1 mRNA and a full-length PDHA2 mRNA in the somatic cells of a PDC-deficient female patient and all members of her immediate family (parents and brother). We have designed a large set of primer pairs in order to perform detailed RT-PCR assays allowing the clear identification of both PDHA1 and PDHA2 mRNA species in somatic cells. In addition, two different experimental approaches were used to elucidate the copy number of PDHA1 gene in the patient and her mother. The interpretation and discussion of these data, along with further extensive experiments concerning the origin of this altered gene expression and its potential therapeutic consequences, can be found in “Complex genetic findings in a female patient with pyruvate dehydrogenase complex deficiency: null mutations in the PDHX gene associated with unusual expression of the testis-specific PDHA2 gene in her somatic cells” (A. Pinheiro, M.J. Silva, C. Florindo, et al., 2016). |
publishDate |
2016 |
dc.date.none.fl_str_mv |
2016-08-20 2016-08-20T00:00:00Z 2020-08-21T00:30:11Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://hdl.handle.net/10400.18/3929 |
url |
http://hdl.handle.net/10400.18/3929 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
Data in Brief. 2016;9:68-77. doi:10.1016/j.dib.2016.08.029 2352-3409 10.1016/j.dib.2016.08.029 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.publisher.none.fl_str_mv |
Elsevier |
publisher.none.fl_str_mv |
Elsevier |
dc.source.none.fl_str_mv |
reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
instname_str |
Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
instacron_str |
RCAAP |
institution |
RCAAP |
reponame_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
collection |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
repository.name.fl_str_mv |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
repository.mail.fl_str_mv |
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1799132126023516160 |