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Mice lacking the mi...
Mice lacking the mitochondrial exonuclease MGME1 accumulate mtDNA deletions without developing progeria
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Matic, S. (author)
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Jiang, M. (author)
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- Nicholls, Thomas J. (author)
- Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för medicinsk kemi och cellbiologi,Institute of Biomedicine, Department of Medical Biochemistry and Cell Biology
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- Uhler, Jay (Jennifer) (author)
- Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för medicinsk kemi och cellbiologi,Institute of Biomedicine, Department of Medical Biochemistry and Cell Biology
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Dirksen-Schwanenland, C. (author)
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Polosa, P. L. (author)
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Simard, M. L. (author)
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Li, X. P. (author)
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Atanassov, I. (author)
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Rackham, O. (author)
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Filipovska, A. (author)
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Stewart, J. B. (author)
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- Falkenberg, Maria, 1968 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för medicinsk kemi och cellbiologi,Institute of Biomedicine, Department of Medical Biochemistry and Cell Biology
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- Larsson, N. G. (author)
- Karolinska Institutet
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Milenkovic, D. (author)
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(creator_code:org_t)
- 2018-03-23
- 2018
- English.
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In: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 9
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Abstract
Subject headings
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- Replication of mammalian mitochondrial DNA (mtDNA) is an essential process that requires high fidelity and control at multiple levels to ensure proper mitochondrial function. Mutations in the mitochondrial genome maintenance exonuclease 1 (MGME1) gene were recently reported in mitochondrial disease patients. Here, to study disease pathophysiology, we generated Mgme1 knockout mice and report that homozygous knockouts develop depletion and multiple deletions of mtDNA. The mtDNA replication stalling phenotypes vary dramatically in different tissues of Mgme1 knockout mice. Mice with MGME1 deficiency accumulate a long linear subgenomic mtDNA species, similar to the one found in mtDNA mutator mice, but do not develop progeria. This finding resolves a long-standing debate by showing that point mutations of mtDNA are the main cause of progeria in mtDNA mutator mice. We also propose a role for MGME1 in the regulation of replication and transcription termination at the end of the control region of mtDNA.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Cell- och molekylärbiologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Cell and Molecular Biology (hsv//eng)
Keyword
- dna-polymerase gamma
- progressive external ophthalmoplegia
- 7s dna
- d-loop
- replication machinery
- maintenance defects
- helicase twinkle
- mutations
- transcription
- protein
- Science & Technology - Other Topics
Publication and Content Type
- ref (subject category)
- art (subject category)
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To the university's database
- By the author/editor
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Matic, S.
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Jiang, M.
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Nicholls, Thomas ...
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Uhler, Jay (Jenn ...
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Dirksen-Schwanen ...
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Polosa, P. L.
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show more...
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Simard, M. L.
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Li, X. P.
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Atanassov, I.
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Rackham, O.
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Filipovska, A.
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Stewart, J. B.
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Falkenberg, Mari ...
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Larsson, N. G.
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Milenkovic, D.
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Cell and Molecul ...
- Articles in the publication
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Nature Communica ...
- By the university
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University of Gothenburg
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Karolinska Institutet