A helicase is born.
One of three loci previously associated with autosomal dominant progressive external ophthalmoplegia (adPEO) encodes ANT1, a mitochondrial nucleotide transporter. Now, mutations in two other genes are found in people with adPEO. One of these encodes a new helicase, Twinkle, which is related to the product of bacteriophage T7 gene 4, and co-localizes with mitochondrial DNA. The identification of Twinkle adds a new star to the expanding constellation of 'helicase diseases'.
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D004265:DNA Helicases; D019915:DNA Primase / Q000235:genetics*; D004272:DNA, Mitochondrial / Q000235:genetics*; D006801:Humans; D024101:Mitochondrial Proteins; D017246:Ophthalmoplegia, Chronic Progressive External / Q000201:enzymology / Q000235:genetics*; D017384:Sequence Deletion
D004272:DNA, Mitochondrial; D024101:Mitochondrial Proteins; D019915:DNA Primase; D004265:DNA Helicases; C431576:TWNK protein, human