Human mitochondrial DNA deletions associated with mutations in the gene encoding twinkle, a phage T7 gene 4-like protein localized in mitochondria

Spelbrink, Johannes N.; Li, Fang-Yuan; Tiranti, Valeria; Nikali, Kaisu; Yuan, Qiu-Ping; Tariq, Muhammed; Wanrooij, Sjoerd; Garrido, Nuria; Comi, Giacomo; Morandi, Lucia; Santoro, Lucio; Toscano, Antonio; Fabrizi, Gian-Maria; Somer, Hannu; Croxen, Rebecca; Beeson, David; Poulton, Joanna; Suomalainen, Anu; Jacobs, Howard T; Zeviani, Massimo; Larsson, Catharina

doi:10.1038/90058

Cited by 884Mitochondrial Function and PathologyDNA Repair MechanismsGenomics and Rare Diseases

Human mitochondrial DNA deletions associated with mutations in the gene encoding twinkle, a phage T7 gene 4-like protein localized in mitochondria

Spelbrink, Johannes N., Li, Fang-Yuan, Tiranti, Valeria, Nikali, Kaisu, Yuan, Qiu-Ping, Tariq, Muhammed, Wanrooij, Sjoerd, Garrido, Nuria +13 more·2001·Nature Genetics

DOI 10.1038/90058

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Abstract

The gene products involved in mammalian mitochondrial DNA (mtDNA) maintenance and organization remain largely unknown. We report here a novel mitochondrial protein, Twinkle, with structural similarity to phage T7 gene 4 primase/helicase and other hexameric ring helicases. Twinkle colocalizes with mtDNA in mitochondrial nucleoids. Screening of the gene encoding Twinkle in individuals with autosomal dominant progressive external ophthalmoplegia (adPEO), associated with multiple mtDNA deletions, identified 11 different coding-region mutations co-segregating with the disorder in 12 adPEO pedigrees of various ethnic origins. The mutations cluster in a region of the protein proposed to be involved in subunit interactions. The function of Twinkle is inferred to be critical for lifetime maintenance of human mtDNA integrity.

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Twinkle is involved in D-loop formation and localizes to the nucleoid.
“It is involved in D-loop formation and localizes to the nucleoid (Jemt et al., 2015; Milenkovic et al., 2013; Spelbrink et al., 2001).”
From Role of the mitochondrial DNA replication machinery in mitochondrial DNA mutagenesis, aging and age-related diseases (2017) · cites this paper as Spelbrink et al., 2001
Twinkle was classified as a helicase based on sequence similarity to bacteriophage T7 gene 4 primase-helicase (T7 gp4).
“It was classified as a helicase based on sequence similarity to bacteriophage T7 gene 4 primase-helicase (T7 gp4) (Spelbrink et al., 2001).”
From Role of the mitochondrial DNA replication machinery in mitochondrial DNA mutagenesis, aging and age-related diseases (2017) · cites this paper as Spelbrink et al., 2001
31 dominant and 3 recessive Twinkle mutations have been recognized, the majority of which cause age-related disease.
“In all, 31 dominant and 3 recessive mutations have been recognized, the majority of which cause age-related disease (Sanchez-Martinez et al., 2012; Spelbrink et al., 2001).”
From Role of the mitochondrial DNA replication machinery in mitochondrial DNA mutagenesis, aging and age-related diseases (2017) · cites this paper as Spelbrink et al., 2001

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Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice
Tyynismaa, H., Mjosund, K. P., Wanrooij, S., Lappalainen, I., Ylikallio, E., Jalanko, A., Spelbrink, J. N., Paetau, A., & Suomalainen, A. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0505551102 · Cited by 342 · see citing works

Authors: Spelbrink, J. N., Li, F.-Y., Tiranti, V., Nikali, K., Yuan, Q.-P., Tariq, M., Wanrooij, S., Garrido, N., Comi, G., Morandi, L., Santoro, L., Toscano, A., Fabrizi, G.-M., Somer, H., Croxen, R., Beeson, D., Poulton, J., Suomalainen, A., Jacobs, H. T., Zeviani, M., & Larsson, C.
Affiliations: Tampere University Hospital (FI)
Karolinska University Hospital (SE)
Fondazione IRCCS Istituto Neurologico Carlo Besta (IT)
Pakistan Institute of Medical Sciences (PK)
University of Milan (IT)
University of Naples Federico II (IT)
University of Verona (IT)
University of Helsinki (FI)
John Radcliffe Hospital (GB)
Montreal Neurological Institute and Hospital (CA)
Corresponding author: Spelbrink, Johannes N.
ORCID: Spelbrink, Johannes N.
Tiranti, Valeria
Wanrooij, Sjoerd
Comi, Giacomo
Santoro, Lucio
Fabrizi, Gian-Maria
Beeson, David
Poulton, Joanna
Suomalainen, Anu
Jacobs, Howard T
Zeviani, Massimo
Larsson, Catharina
Venue: Nature Genetics
Publisher: Springer Science and Business Media LLC
Published: 2001-07
Volume: 28
Issue: 3
Pages: 223-231
ISSN: 1061-4036 (ISSN-L)
1546-1718
DOI: 10.1038/90058
OpenAlex: W1551996591
Cited by: 882
References: 48
Citations by year: 2026: 13 · 2025: 17 · 2024: 25 · 2023: 22 · 2022: 28 · 2021: 19 · 2020: 35 · 2019: 29 · 2018: 21 · 2017: 25 · 2016: 40 · 2015: 36 · 2014: 43 · 2013: 48 · 2012: 42
FWCI: 16.33
Type: journal article
Language: en
Update notices: correction (2001-09-01)
Open access: closed
Licence: www.springer.com/tdm (tdm)
www.springer.com/tdm (vor)
Locations: Nature Genetics (publishedVersion)
PubMed (publishedVersion)
Padua Research Archive (University of Padova) (submittedVersion)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Mitochondrial Function and Pathology
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › DNA Repair Mechanisms
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
Keywords: mitochondrial DNA deletions, chronic progressive external ophthalmoplegia, mtDNA maintenance, mitochondrial nucleoids, protein mutations, co-segregation, mitochondrial DNA integrity
MeSH terms: Amino Acid Sequence, Cell Compartmentation, Chromosomes, Human, Pair 10, DNA Helicases, DNA, Mitochondrial, Female, Finland, Heterozygote, Humans, Italy, Genetic Linkage, Male, Molecular Sequence Data, Mutation, Pakistan, Pedigree, Protein Conformation, Ophthalmoplegia, Chronic Progressive External, Sequence Deletion, Sequence Homology, Amino Acid, DNA Primase, Protein Transport, Mitochondrial Proteins

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Human mitochondrial DNA deletions associated with mutations in the gene encoding twinkle, a phage T7 gene 4-like protein localized in mitochondria

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