Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions
作者： Gert Van Goethem , Bart Dermaut , Ann Löfgren , Jean-Jacques Martin , Christine Van Broeckhoven
DOI: 10.1038/90034
关键词:
摘要: Progressive external ophthalmoplegias (PEO) characterized by accumulation of large-scale mitochondrial DNA (mtDNA) deletions are rare human diseases. We mapped a new locus for dominant PEO at 15q22-q26 in Belgian pedigree and identified heterozygous mutation (Y955C) the polymerase motif B mtDNA gamma (POLG). three additional POLG missense mutations compatible with recessive In two nuclear families. is only responsible replication.
nature.com
core.ac.uk
sci-hub.se 参考文章(19)
Stephen S. Morse, The evolutionary biology of viruses New York. ,(1994)
Olivier Le Saux, Zsolt Urban, Cordula Tschuch, Katalin Csiszar, Barbara Bacchelli, Daniela Quaglino, Ivonne Pasquali-Ronchetti, F. Michael Pope, Allan Richards, Sharon Terry, Lionel Bercovitch, Anne de Paepe, Charles D. Boyd, Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum Nature Genetics. ,vol. 25, pp. 223- 227 ,(2000) , 10.1038/76102
Johannes N. Spelbrink, Fang-Yuan Li, Valeria Tiranti, Kaisu Nikali, Qiu-Ping Yuan, Muhammed Tariq, Sjoerd Wanrooij, Nuria Garrido, Giacomo Comi, Lucia Morandi, Lucio Santoro, Antonio Toscano, Gian-Maria Fabrizi, Hannu Somer, Rebecca Croxen, David Beeson, Joanna Poulton, Anu Suomalainen, Howard T Jacobs, Massimo Zeviani, Catharina Larsson, Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria Nature Genetics. ,vol. 28, pp. 223- 231 ,(2001) , 10.1038/90058
Massimo Zeviani, Serenella Servidei, Cinzia Gellera, Enrico Bertini, Salvatore DiMauro, Stefano DiDonato, An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region. Nature. ,vol. 339, pp. 309- 311 ,(1989) , 10.1038/339309A0
Anu Suomalainen, Jyrki Kaukonen, Patrizia Amati, Ritva Timonen, Matti Haltia, Jean Weissenbach, Massimo Zeviani, Hannu Somer, Leena Peltonen, An autosomal locus predisposing to deletions of mitochondrial DNA Nature Genetics. ,vol. 9, pp. 146- 151 ,(1995) , 10.1038/NG0295-146
Ichizo Nishino, Antonella Spinazzola, Michio Hirano, Thymidine Phosphorylase Gene Mutations in MNGIE, a Human Mitochondrial Disorder Science. ,vol. 283, pp. 689- 692 ,(1999) , 10.1126/SCIENCE.283.5402.689
Kevin G. Pinz, Daniel F. Bogenhagen, Characterization of a Catalytically Slow AP Lyase Activity in DNA Polymerase γ and Other Family A DNA Polymerases Journal of Biological Chemistry. ,vol. 275, pp. 12509- 12514 ,(2000) , 10.1074/JBC.275.17.12509
David A. Clayton, Replication of animal mitochondrial DNA Cell. ,vol. 28, pp. 693- 705 ,(1982) , 10.1016/0092-8674(82)90049-6
Philip A. Ropp, William C. Copeland, Cloning and characterization of the human mitochondrial DNA polymerase, DNA polymerase γ Genomics. ,vol. 36, pp. 449- 458 ,(1996) , 10.1006/GENO.1996.0490
J. Wang, A.K.M.A. Sattar, C.C. Wang, J.D. Karam, W.H. Konigsberg, T.A. Steitz, Crystal Structure of a pol α Family Replication DNA Polymerase from Bacteriophage RB69 Cell. ,vol. 89, pp. 1087- 1099 ,(1997) , 10.1016/S0092-8674(00)80296-2