Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2001 Jul;28(3):223-31.
doi: 10.1038/90058.

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

J N Spelbrink  1 , F Y Li, V Tiranti, K Nikali, Q P Yuan, M Tariq, S Wanrooij, N Garrido, G Comi, L Morandi, L Santoro, A Toscano, G M Fabrizi, H Somer, R Croxen, D Beeson, J Poulton, A Suomalainen, H T Jacobs, M Zeviani, C Larsson
Affiliations

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

J N Spelbrink et al. Nat Genet. 2001 Jul.

Erratum in

  • Nat Genet 2001 Sep;29(1):100

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.

PubMed Disclaimer

Comment in

  • A helicase is born.
    Moraes CT. Moraes CT. Nat Genet. 2001 Jul;28(3):200-1. doi: 10.1038/90020. Nat Genet. 2001. PMID: 11431681

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

Publication types

MeSH terms

Associated data

Grants and funding