title: Data supporting the co-expression of PDHA1 gene and of its paralogue PDHA2 in somatic cells of a family.
abstract: 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) [1].
authors.affiliation: Metabolism & Genetics Group, Research Institute for Medicines (iMed.ULisboa), Faculty of Pharmacy, Universidade de Lisboa, Portugal.
authors.forename: Ana
authors.initials: A
authors.lastname: Pinheiro
authors.affiliation: Metabolism & Genetics Group, Research Institute for Medicines (iMed.ULisboa), Faculty of Pharmacy, Universidade de Lisboa, Portugal; Department of Biochemistry and Human Biology, Faculty of Pharmacy, Universidade de Lisboa, Portugal.
authors.forename: Maria João
authors.initials: MJ
authors.lastname: Silva
authors.affiliation: Metabolism & Genetics Group, Research Institute for Medicines (iMed.ULisboa), Faculty of Pharmacy, Universidade de Lisboa, Portugal.
authors.forename: Hana
authors.initials: H
authors.lastname: Pavlu-Pereira
authors.affiliation: Metabolism & Genetics Group, Research Institute for Medicines (iMed.ULisboa), Faculty of Pharmacy, Universidade de Lisboa, Portugal.
authors.forename: Cristina
authors.initials: C
authors.lastname: Florindo
authors.affiliation: Metabolism & Genetics Group, Research Institute for Medicines (iMed.ULisboa), Faculty of Pharmacy, Universidade de Lisboa, Portugal.
authors.forename: Madalena
authors.initials: M
authors.lastname: Barroso
authors.affiliation: Department of Human Genetics - Molecular Cytogenetic Unit National Institute of Health Doctor Ricardo Jorge, I.P., Lisboa, Portugal.
authors.forename: Bárbara
authors.initials: B
authors.lastname: Marques
authors.affiliation: Department of Human Genetics - Molecular Cytogenetic Unit National Institute of Health Doctor Ricardo Jorge, I.P., Lisboa, Portugal.
authors.forename: Hildeberto
authors.initials: H
authors.lastname: Correia
authors.affiliation: Department of Medicine, Hospital Santa Maria, Lisboa, Portugal.
authors.forename: Anabela
authors.initials: A
authors.lastname: Oliveira
authors.affiliation: Department of Pediatrics, Hospital Santa Maria, Lisboa, Portugal.
authors.forename: Ana
authors.initials: A
authors.lastname: Gaspar
authors.affiliation: Metabolism & Genetics Group, Research Institute for Medicines (iMed.ULisboa), Faculty of Pharmacy, Universidade de Lisboa, Portugal; Department of Biochemistry and Human Biology, Faculty of Pharmacy, Universidade de Lisboa, Portugal.
authors.forename: Isabel
authors.initials: I
authors.lastname: Tavares de Almeida
authors.affiliation: Metabolism & Genetics Group, Research Institute for Medicines (iMed.ULisboa), Faculty of Pharmacy, Universidade de Lisboa, Portugal; Department of Biochemistry and Human Biology, Faculty of Pharmacy, Universidade de Lisboa, Portugal.
authors.forename: Isabel
authors.initials: I
authors.lastname: Rivera
keywords: Complex gene expression; Pyruvate dehydrogenase; Testis-specific gene