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Article

Linear mtDNA fragments and unusual mtDNA rearrangements associated with pathological deficiency of MGME1 exonuclease.

Human molecular genetics - 1 Dec 2014

Nicholls Thomas J, Zsurka Gábor, Peeva Viktoriya, Schöler Susanne, Szczesny Roman J, Cysewski Dominik, Reyes Aurelio, Kornblum Cornelia, Sciacco Monica, Moggio Maurizio, Dziembowski Andrzej, Kunz Wolfram S, Minczuk Michal

Abstract excerpt

MGME1, also known as Ddk1 or C20orf72, is a mitochondrial exonuclease found to be involved in the processing of mitochondrial DNA (mtDNA) during replication. Here, we present detailed insights on the role of MGME1 in mtDNA maintenance. Upon loss of MGME1, elongated 7S DNA species accumulate owing to incomplete processing of 5' ends. Moreover, an 11-kb linear mtDNA fragment spanning the entire major arc of the...

Topics

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Cell Line
DNA-Directed DNA Polymerase
DNA, Mitochondrial
DNA Polymerase gamma
DNA Replication

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Exodeoxyribonucleases

Gene Rearrangement

Mitochondrial Diseases

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Identifiers

PMID: 24986917
DOI: 10.1093/hmg/ddu336
PMCID: PMC4222359

Genes

MGME1

Provenance

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