Nature Genetics
28, 200 - 201 (2001)
doi:10.1038/90020
A helicase is bornCarlos T. Moraes
Departments of Neurology and Cell Biology & Anatomy, University of Miami School of Medicine. Miami, Florida 33136, USA.
cmoraes@med.miami.edu
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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