Cited by 298DNA Repair MechanismsMitochondrial Function and PathologyDNA and Nucleic Acid Chemistry

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TWINKLE Has 5' −>3' DNA helicase activity and is specifically stimulated by mitochondrial single-stranded DNA-binding protein

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Korhonen, Jenny A., Gaspari, Martina, Falkenberg, Maria·2003·Journal of Biological Chemistry

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Abstract

Mutations in TWINKLE cause autosomal dominant progressive external ophthalmoplegia, a human disorder associated with multiple deletions in the mitochondrial DNA. TWINKLE displays primary sequence similarity to the phage T7 gene 4 primase-helicase, but no specific enzyme activity has been assigned to the protein. We have purified recombinant TWINKLE to near homogeneity and demonstrate here that TWINKLE is a DNA helicase with 5' to 3' directionality and distinct substrate requirements. The protein needs a stretch of 10 nucleotides of single-stranded DNA on the 5'-side of the duplex to unwind duplex DNA. In addition, helicase activity is not observed unless a short single-stranded 3'-tail is present. The helicase activity has an absolute requirement for hydrolysis of a nucleoside 5'-triphosphate, with UTP being the optimal substrate. DNA unwinding by TWINKLE is specifically stimulated by the mitochondrial single-stranded DNA-binding protein. Our enzymatic characterization strongly supports the notion that TWINKLE is the helicase at the mitochondrial DNA replication fork and provides evidence for a close relationship of the DNA replication machinery in bacteriophages and mammalian mitochondria.

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Authors: Korhonen, J. A., Gaspari, M., & Falkenberg, M.
Affiliations: Karolinska Institutet (SE)
Corresponding author: Falkenberg, Maria
ORCID: Falkenberg, Maria
Venue: Journal of Biological Chemistry
Publisher: Elsevier BV
Published: 2003-12
Volume: 278
Issue: 49
Pages: 48627-48632
ISSN: 0021-9258 (ISSN-L)
DOI: 10.1074/jbc.m306981200
OpenAlex: W2077517552
Cited by: 298
References: 26
Citations by year: 2026: 9 · 2025: 14 · 2024: 6 · 2023: 9 · 2022: 14 · 2021: 15 · 2020: 15 · 2019: 12 · 2018: 20 · 2017: 6 · 2016: 16 · 2015: 19 · 2014: 12 · 2013: 13 · 2012: 11
FWCI: 2.99
Type: journal article
Language: en
Open access: hybrid
doi.org
Licence: cc-by
www.elsevier.com/tdm/userlicense/1.0/ (tdm)
creativecommons.org/licenses/by/4.0/ (vor, 6139 d)
Locations: Journal of Biological Chemistry (publishedVersion, cc-by)
PubMed (publishedVersion)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › DNA Repair Mechanisms
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Mitochondrial Function and Pathology
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › DNA and Nucleic Acid Chemistry
Keywords: Twinkle, DNA helicase, mitochondrial DNA replication, mitochondrial single-stranded DNA-binding protein, chronic progressive external ophthalmoplegia, mitochondrial DNA deletions, single-stranded DNA
MeSH terms: Animals, Base Sequence, Cell Line, DNA Helicases, DNA-Binding Proteins, Mitochondria, Recombinant Proteins, DNA Primers, DNA Primase

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TWINKLE Has 5' −>3' DNA helicase activity and is specifically stimulated by mitochondrial single-stranded DNA-binding protein

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