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'.
This is a preview of subscription content, log in via an institution to check access.
References
Moraes, C.T. et al. N. Engl. J. Med. 320, 1293–1299 (1989).
Zeviani, M. et al. Nature 339, 309–311 (1989).
Spelbrink, J.N. et al. Nature Genet. 28, 223–231 (2001).
Kaukonen, J. et al. Science 289, 782–785 (2000).
Karow, J.K., Wu, L. & Hickson, I.D. Curr. Opin. Genet. Dev. 10, 32–38 (2000).
Luking, A., Stahl, U. & Schmidt, U. Crit. Rev. Biochem. Mol. Biol. 33, 259–296 (1998).
Patel, S.S. & Picha, K.M. Annu. Rev. Biochem. 69, 651–697 (2000).
Hehman, G.L. & Hauswirth, W.W. Proc. Natl. Acad. Sci. USA 89, 8562–8566 (1992).
Valgardsdottir, R., Brede, G., Eide, L.G., Frengen, E. & Prydz, H.P. J. Biol. Chem (in press).
Sedman, T., Kuusk, S., Kivi, S. & Sedman, J. Mol. Cell. Biol. 20, 1816–1824 (2000).
Lecrenier, N. & Foury, F. Gene 246, 37–48 (2000).
Ellis, N.A. et al. Cell 83, 655–666 (1995).
Yu, C.E. et al. Science 272, 258–262 (1996).
Kitao, S. et al. Nature Genet. 22, 82–84 (1999).
Nishino, I., Spinazzola, A. & Hirano, M. Science 283, 689–692 (1999).
Villani, G. & Tanguy Le Gac, N. J. Biol. Chem. 275, 33185–33188 (2000).
Van Goethem, G., Löfgren, A., Dermaut, B. Martin, J.J. & Van Broeckhoven, C. Nature Genet. 26, 213–214 (2001).
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Moraes, C. A helicase is born. Nat Genet 28, 200–201 (2001). https://doi.org/10.1038/90020
Issue Date:
DOI: https://doi.org/10.1038/90020
- Springer Nature America, Inc.
This article is cited by
-
Chronic progressive external ophthalmoplegia
Current Neurology and Neuroscience Reports (2002)