Maintaining the Human Mitochondrial Genome

Project Information

DELMIT

Grant agreement ID: 683191

DOI 10.3030/683191

Project closed

EC signature date 4 April 2016

Start date 1 November 2016

End date 31 October 2021

Funded under

• EXCELLENT SCIENCE - European Research Council (ERC)

Total cost € 1 999 985,00

EU contribution € 1 999 985,00

Coordinated by

GOETEBORGS UNIVERSITET
Sweden

CORDIS provides links to public deliverables and publications of HORIZON projects.

Links to deliverables and publications from FP7 projects, as well as links to some specific result types such as dataset and software, are dynamically retrieved from OpenAIRE .

Publications

Peer reviewed articles (22)

Defective mitochondrial protease LonP1 can cause classical mitochondrial disease

Author(s): Peter, Bradley; Waddington, Christie L; Oláhová, Monika; Sommerville, Ewen W; Hopton, Sila; Pyle, Angela; Champion, Michael; Ohlson, Monica; Siibak, Triinu; Chrzanowska-Lightowlers, Zofia M A; Taylor, Robert W; Falkenberg, Maria; Lightowlers, Robert N
Published in: Human Molecular Genetics, Issue 17, 2018, Page(s) 1743-1753, ISSN 0964-6906
Publisher: Oxford University Press
DOI: 10.1093/hmg/ddy080

Topoisomerase 3α Is Required for Decatenation and Segregation of Human mtDNA

Author(s): Thomas J. Nicholls; Cristina A. Nadalutti; Elisa Motori; Ewen W. Sommerville; Grainne S. Gorman; Swaraj Basu; Emily Hoberg; Douglass M. Turnbull; Patrick F. Chinnery; Nils-Göran Larsson; Erik Larsson; Maria Falkenberg; Robert W. Taylor; Jack D. Griffith; Claes M. Gustafsson
Published in: Molecular Cell, Issue 1, 2019, ISSN 1097-2765
Publisher: Cell Press
DOI: 10.1016/j.molcel.2017.11.033

Organization of DNA in Mammalian Mitochondria

Author(s): Farge, Géraldine; Falkenberg, Maria
Published in: International Journal of Molecular Sciences, Issue 1, 2019, ISSN 1422-0067
Publisher: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/ijms20112770

Dinucleotide degradation by REXO2 maintains promoter specificity in mammalian mitochondria

Author(s): Thomas J. Nicholls; Henrik Spåhr; Henrik Spåhr; Shan Jiang; Shan Jiang; Stefan J. Siira; Stefan J. Siira; Camilla Koolmeister; Camilla Koolmeister; Sushma Sharma; Johanna H.K. Kauppila; Min Jiang; Volkhard Kaever; Oliver Rackham; Oliver Rackham; Andrei Chabes; Maria Falkenberg; Aleksandra Filipovska; Aleksandra Filipovska; Nils-Göran Larsson; Nils-Göran Larsson; Claes M. Gustafsson
Published in: Molecular Cell, Issue 1, 2019, ISSN 1097-2765
Publisher: Cell Press
DOI: 10.1016/j.molcel.2019.09.010

TWINKLE and Other Human Mitochondrial DNA Helicases: Structure, Function and Disease

Author(s): Bradley Peter, Maria Falkenberg
Published in: Genes, Issue 11/4, 2020, Page(s) 408, ISSN 2073-4425
Publisher: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/genes11040408

Accurate mapping of mitochondrial DNA deletions and duplications using deep sequencing

Author(s): Swaraj Basu; Xie Xie; Jay P. Uhler; Carola Hedberg-Oldfors; Dusanka Milenkovic; Olivier R. Baris; Olivier R. Baris; Sammy Kimoloi; Stanka Matic; James B. Stewart; James B. Stewart; Nils-Göran Larsson; Rudolf J. Wiesner; Anders Oldfors; Claes M. Gustafsson; Maria Falkenberg; Erik Larsson
Published in: ISSN: 1553-7390, Issue 1, 2020, ISSN 1553-7404
Publisher: Oxford University press
DOI: 10.1371/journal.pgen.1009242

Copy-choice recombination during mitochondrial L-strand synthesis causes DNA deletions

Author(s): Persson, Örjan; Muthukumar, Yazh; Basu, Swaraj; Jenninger, Louise; Uhler, Jay P.; Berglund, Anna-Karin; McFarland, Robert; Taylor, Robert W.; Gustafsson, Claes M.; Larsson, Erik; Falkenberg, Maria
Published in: Nature Communications, Issue 2, 2019, ISSN 2041-1723
Publisher: Nature Publishing Group
DOI: 10.1038/s41467-019-08673-5

Functional analysis of a novel POLγA mutation associated with a severe perinatal mitochondrial encephalomyopathy.

Author(s): Niklas Darin; Triinu Siibak; Bradley Peter; Carola Hedberg-Oldfors; Gittan Kollberg; Vassili Kalbin; Ali-Reza Moslemi; Bertil Macao; Anders Oldfors; Maria Falkenberg
Published in: Neuromuscular Disorders, Issue 1, 2021, ISSN 0960-8966
Publisher: Elsevier BV
DOI: 10.1016/j.nmd.2021.01.004

Deep sequencing of mitochondrial DNA and characterization of a novel POLG mutation in a patient with arPEO

Author(s): Hedberg-Oldfors, Carola; Macao, Bertil; Basu, Swaraj; Lindberg, Christopher; Peter, Bradley; Erdinc, Direnis; Uhler, Jay P.; Larsson, Erik; Falkenberg, Maria; Oldfors, Anders
Published in: Neurology: Genetics, Issue 1, 2019, ISSN 2376-7839
Publisher: Wolter Kluwer

Disease causing mutation (P178L) in mitochondrial transcription factor A results in impaired mitochondrial transcription initiation

Author(s): Majda Mehmedović, Martial Martucci, Henrik Spåhr, Layal Ishak, Anup Mishra, Maria Eugenia Sanchez-Sandoval, Carlos Pardo-Hernández, Bradley Peter, Siet M van den Wildenberg, Maria Falkenberg, Geraldine Farge
Published in: BBA Mol basis Dis, 2022, ISSN 0925-4439
Publisher: Elsevier BV
DOI: 10.1016/j.bbadis.2022.166467

Mitochondrial DNA replication in mammalian cells: overview of the pathway

Author(s): Falkenberg, Maria
Published in: Essays in Biochemistry, Issue 8, 2017, Page(s) EBC20170100, ISSN 0071-1365
Publisher: Portland Press, Ltd.
DOI: 10.1042/ebc20170100

Structural basis for adPEO-causing mutations in the mitochondrial TWINKLE helicase.

Author(s): Bradley Peter; Geraldine Farge; Carlos Pardo-Hernandez; Stefan Tångefjord; Maria Falkenberg
Published in: "Human Molecular Genetics, Oxford University Press (OUP), 2019, 28 (7), pp.1090-1099. ⟨10.1093/hmg/ddy415⟩", Issue 1, 2018, ISSN 0964-6906
Publisher: Oxford University Press
DOI: 10.1093/hmg/ddy415

A two-nuclease pathway involving RNase H1 is required for primer removal at human mitochondrial OriL.

Author(s): Al-Behadili, Ali; Uhler, Jay P; Berglund, Anna-Karin; Peter, Bradley; Doimo, Mara; Reyes, Aurelio; Wanrooij, Sjoerd; Zeviani, Massimo; Falkenberg, Maria
Published in: Nucleic Acids Research, Issue 1, 2018, ISSN 0305-1048
Publisher: Oxford University Press
DOI: 10.17863/cam.32428

Selective mitochondrial DNA degradation following double-strand breaks.

Author(s): Moretton, Amandine; Morel, Frédéric; Macao, Bertil; Lachaume, Philippe; Ishak, Layal; Lefebvre, Mathilde; Garreau-Balandier, Isabelle; Vernet, Patrick; Falkenberg, Maria; Farge, Géraldine
Published in: PLoS ONE, Issue 2, 2017, ISSN 1932-6203
Publisher: Public Library of Science
DOI: 10.1371/journal.pone.0176795

A multi-systemic mitochondrial disorder due to a dominant p.Y955H disease variant in DNA polymerase gamma

Author(s): Siibak, Triinu; Clemente, Paula; Bratic, Ana; Bruhn, Helene; Kauppila, Timo E.S.; Macao, Bertil; Schober, Florian A.; Lesko, Nicole; Wibom, Rolf; Naess, Karin; Nennesmo, Inger; Wedell, Anna; Peter, Bradley; Freyer, Christoph; Falkenberg, Maria; Wredenberg, Anna
Published in: Human Molecular Genetics, Issue 1, 2017, ISSN 0964-6906
Publisher: Oxford University Press

Ribonucleotides embedded in template DNA impair mitochondrial RNA polymerase progression

Author(s): Meenakshi Singh; Viktor Posse; Bradley Peter; Maria Falkenberg; Claes M Gustafsson
Published in: Nucleic Acids Research, Issue 1, 2022, ISSN 0305-1048
Publisher: Oxford University Press
DOI: 10.1093/nar/gkab1251

Mammalian mitochondrial DNA replication and mechanisms of deletion formation.

Author(s): Maria Falkenberg; Claes M. Gustafsson
Published in: Critical Reviews in Biochemistry and Molecular Biology, Issue 1, 2020, ISSN 1040-9238
Publisher: Taylor & Francis
DOI: 10.1080/10409238.2020.1818684

RNase H1 directs origin-specific initiation of DNA replication in human mitochondria.

Author(s): Posse, Viktor; Al-Behadili, Ali; Uhler, Jay P.; Clausen, Anders R.; Reyes, Aurelio; Zeviani, Massimo; Falkenberg, Maria; Gustafsson, Claes M.
Published in: PLoS Genetics, Issue 1, 2019, ISSN 1553-7404
Publisher: Plos genet
DOI: 10.17863/cam.36028

DNA polymerase gamma mutations that impair holoenzyme stability cause catalytic subunit depletion

Author(s): Pedro Silva-Pinheiro; Carlos Pardo-Hernández; Aurelio Reyes; Lisa Tilokani; Anup Mishra; Raffaele Cerutti; Shuaifeng Li; Dieu-Hien Rozsivalova; Sebastian Valenzuela; Sukru Anil Dogan; Bradley Peter; Patricio Fernández-Silva; Aleksandra Trifunovic; Julien Prudent; Michal Minczuk; Laurence A. Bindoff; Bertil Macao; Massimo Zeviani; Maria Falkenberg; Carlo Viscomi
Published in: essn: 1362-4962, Issue 1, 2021, ISSN 0305-1048
Publisher: Oxford University Press
DOI: 10.1093/nar/gkab282

Nucleotide pools dictate the identity and frequency of ribonucleotide incorporation in mitochondrial DNA

Author(s): Berglund, Anna-Karin; Navarrete, Clara; Engqvist, Martin K. M.; Hoberg, Emily; Szilagyi, Zsolt; Taylor, Robert W.; Gustafsson, Claes M.; Falkenberg, Maria; Clausen, Anders R.
Published in: PLoS Genetics, Issue 1, 2017, ISSN 1553-7404
Publisher: PLoS Genet.

Non-coding 7S RNA inhibits transcription via mitochondrial RNA polymerase dimerization

Author(s): Xuefeng Zhu, Xie Xie, Hrishikesh Das, Benedict G Tan, Yonghong Shi, Ali Al-Behadili, Bradley Peter, Elisa Motori, Sebastian Valenzuela, Viktor Posse, Claes M Gustafsson, B Martin Hällberg, Maria Falkenberg
Published in: Cell, 2022, ISSN 0092-8674
Publisher: Cell Press
DOI: 10.1016/j.cell.2022.05.006

The mitochondrial single-stranded DNA binding protein is essential for initiation of mtDNA replication.

Author(s): Min Jiang; Min Jiang; Xie Xie; Xuefeng Zhu; Shan Jiang; Dusanka Milenkovic; Jelena Misic; Yonghong Shi; Nirwan Tandukar; Xinping Li; Ilian Atanassov; Louise Jenninger; Emily Hoberg; Sara Albarran-Gutierrez; Zsolt Szilagyi; Bertil Macao; Stefan J. Siira; Stefan J. Siira; Valerio Carelli; Jack D. Griffith; Claes M. Gustafsson; Thomas J. Nicholls; Aleksandra Filipovska; Aleksandra Filipovska; Nils-G
Published in: The mitochondrial single-stranded DNA binding protein is essential for initiation of mtDNA replication, Issue 1, 2021, ISSN 2375-2548
Publisher: the American Association for the Advancement of Science
DOI: 10.1126/sciadv.abf8631