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Tissue-specific mtDNA abundance from exome data and its correlation with mitochondrial transcription, mass and respiratory activity.

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cam.issuedOnline2014-11-01
dc.contributor.authorD'Erchia, Anna Maria
dc.contributor.authorAtlante, Anna
dc.contributor.authorGadaleta, Gemma
dc.contributor.authorPavesi, Giulio
dc.contributor.authorChiara, Matteo
dc.contributor.authorDe Virgilio, Caterina
dc.contributor.authorManzari, Caterina
dc.contributor.authorMastropasqua, Francesca
dc.contributor.authorPrazzoli, Gian Marco
dc.contributor.authorPicardi, Ernesto
dc.contributor.authorGissi, Carmela
dc.contributor.authorHorner, David
dc.contributor.authorReyes, Aurelio
dc.contributor.authorSbisà, Elisabetta
dc.contributor.authorTullo, Apollonia
dc.contributor.authorPesole, Graziano
dc.contributor.orcidReyes Tellez, Aurelio [0000-0003-2876-2202]
dc.date.accessioned2019-06-06T14:46:01Z
dc.date.available2019-06-06T14:46:01Z
dc.date.issued2015-01
dc.description.abstractEukaryotic cells contain a population of mitochondria, variable in number and shape, which in turn contain multiple copies of a tiny compact genome (mtDNA) whose expression and function is strictly coordinated with the nuclear one. mtDNA copy number varies between different cell or tissues types, both in response to overall metabolic and bioenergetics demands and as a consequence or cause of specific pathological conditions. Here we present a novel and reliable methodology to assess the effective mtDNA copy number per diploid genome by investigating off-target reads obtained by whole-exome sequencing (WES) experiments. We also investigate whether and how mtDNA copy number correlates with mitochondrial mass, respiratory activity and expression levels. Analyzing six different tissues from three age- and sex-matched human individuals, we found a highly significant linear correlation between mtDNA copy number estimated by qPCR and the frequency of mtDNA off target WES reads. Furthermore, mtDNA copy number showed highly significant correlation with mitochondrial gene expression levels as measured by RNA-Seq as well as with mitochondrial mass and respiratory activity. Our methodology makes thus feasible, at a large scale, the investigation of mtDNA copy number in diverse cell-types, tissues and pathological conditions or in response to specific treatments.
dc.description.sponsorshipThis work was supported by Ministero dell'Istruzione, Università e Ricerca (projects PRIN-2009, Micromap [PON01_02589], Virtualab [PON01_01297]) and by Consiglio Nazionale delle Ricerche (progetto strategico “Medicina personalizzata”, progetto strategico “Invecchiamento”, progetto bandiera “Epigen”).
dc.identifier.doi10.17863/CAM.40590
dc.identifier.eissn1872-8278
dc.identifier.issn1567-7249
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/293441
dc.languageeng
dc.language.isoeng
dc.publisherElsevier
dc.publisher.urlhttps://www.sciencedirect.com/science/article/pii/S1567724914001366?via%3Dihub#!
dc.subjectBioinformatics tools
dc.subjectMitochondrial DNA
dc.subjectMitochondrial activity
dc.subjectMitochondrial gene expression
dc.subjectNucleo-mitochondrial cross-talk
dc.subjectWhole-exome sequencing
dc.subjectCell Respiration
dc.subjectDNA, Mitochondrial
dc.subjectExome
dc.subjectGene Dosage
dc.subjectHumans
dc.subjectMale
dc.subjectMiddle Aged
dc.subjectMitochondria
dc.subjectTranscription, Genetic
dc.titleTissue-specific mtDNA abundance from exome data and its correlation with mitochondrial transcription, mass and respiratory activity.
dc.typeArticle
dcterms.dateAccepted2014-10-29
prism.endingPage21
prism.publicationDate2015
prism.publicationNameMitochondrion
prism.startingPage13
prism.volume20
rioxxterms.licenseref.startdate2015-01
rioxxterms.licenseref.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/
rioxxterms.typeJournal Article/Review
rioxxterms.versionAM
rioxxterms.versionofrecord10.1016/j.mito.2014.10.005

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