Article
Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria.
Nature genetics - 1 Jul 2001
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
Abstract excerpt
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...
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