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Gene Review

C10orf2  -  chromosome 10 open reading frame 2

Homo sapiens

Synonyms: ATXN8, FLJ21832, IOSCA, MTDPS7, PEO, ...
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Disease relevance of PEO1


Psychiatry related information on PEO1


High impact information on PEO1


Chemical compound and disease context of PEO1


Biological context of PEO1


Anatomical context of PEO1

  • The role of epidermal growth factor (EGF) and transforming growth factor-alpha (TGF-alpha) in the growth modulation of three human ovarian adenocarcinoma cell lines, PEO1, PEO4 and PEO14, has been examined by measuring responses of the cells growing in monolayer culture to exogenous addition of the growth factors [21].
  • CONCLUSIONS : A homozygous POLG1 mutation might explain PEO with mitochondrial abnormalities in skeletal muscle in our propositus, and it might have aggravated his axonal and hypomyelinating sensory-motor neuropathy [22].
  • We also found that one novel KLK5 transcript with a short 5'-untranslated region and a novel KLK7 transcript with a long 3'-untranslated region were highly expressed in the ovarian cancer cell lines OVCAR-3 and PEO1, respectively, but were expressed at very low levels in normal ovarian epithelial cells [23].
  • The effect of Matrigel, a solubilised tissue basement membrane extract, has been investigated on the tumorigenicity of 3 breast (MCF-7, T47D and MDA.MB.231) and 5 ovarian [PEO1, PEO1 cDDPr, PEO4, PEO14 and OV(hyg)CAR3] carcinoma cell lines [24].
  • The more significant coordinated expression was found in muscle from patients with the MELAS, myoclonic epilepsy with ragged red fibers, and chronic progressive external ophthalmoplegia deletion syndromes, with ragged red muscle fibers and mitochondrial paracrystalline inclusions [25].

Associations of PEO1 with chemical compounds


Other interactions of PEO1


Analytical, diagnostic and therapeutic context of PEO1


  1. Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population. González-Vioque, E., Blázquez, A., Fernández-Moreira, D., Bornstein, B., Bautista, J., Arpa, J., Navarro, C., Campos, Y., Fernández-Moreno, M.A., Garesse, R., Arenas, J., Martín, M.A. Arch. Neurol. (2006) [Pubmed]
  2. Genetic and chemical rescue of the Saccharomyces cerevisiae phenotype induced by mitochondrial DNA polymerase mutations associated with progressive external ophthalmoplegia in humans. Baruffini, E., Lodi, T., Dallabona, C., Puglisi, A., Zeviani, M., Ferrero, I. Hum. Mol. Genet. (2006) [Pubmed]
  3. Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma. Filosto, M., Mancuso, M., Nishigaki, Y., Pancrudo, J., Harati, Y., Gooch, C., Mankodi, A., Bayne, L., Bonilla, E., Shanske, S., Hirano, M., DiMauro, S. Arch. Neurol. (2003) [Pubmed]
  4. Two families with autosomal dominant progressive external ophthalmoplegia. Kiechl, S., Horváth, R., Luoma, P., Kiechl-Kohlendorfer, U., Wallacher-Scholz, B., Stucka, R., Thaler, C., Wanschitz, J., Suomalainen, A., Jaksch, M., Willeit, J. J. Neurol. Neurosurg. Psychiatr. (2004) [Pubmed]
  5. Disorders of nuclear-mitochondrial intergenomic signaling. Spinazzola, A., Zeviani, M. Gene (2005) [Pubmed]
  6. Mutation of the linker region of the polymerase gamma-1 (POLG1) gene associated with progressive external ophthalmoplegia and Parkinsonism. Hudson, G., Schaefer, A.M., Taylor, R.W., Tiangyou, W., Gibson, A., Venables, G., Griffiths, P., Burn, D.J., Turnbull, D.M., Chinnery, P.F. Arch. Neurol. (2007) [Pubmed]
  7. A novel ANT1 gene mutation with probable germline mosaicism in autosomal dominant progressive external ophthalmoplegia. Deschauer, M., Hudson, G., Müller, T., Taylor, R.W., Chinnery, P.F., Zierz, S. Neuromuscul. Disord. (2005) [Pubmed]
  8. Mitochondrial DNA (mtDNA) diseases: correlation of genotype to phenotype. Morgan-Hughes, J.A., Sweeney, M.G., Cooper, J.M., Hammans, S.R., Brockington, M., Schapira, A.H., Harding, A.E., Clark, J.B. Biochim. Biophys. Acta (1995) [Pubmed]
  9. Mitochondrial dysfunction in bipolar disorder. Kato, T., Kato, N. Bipolar disorders. (2000) [Pubmed]
  10. Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. Van Goethem, G., Dermaut, B., Löfgren, A., Martin, J.J., Van Broeckhoven, C. Nat. Genet. (2001) [Pubmed]
  11. Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria. 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. Nat. Genet. (2001) [Pubmed]
  12. An autosomal locus predisposing to deletions of mitochondrial DNA. Suomalainen, A., Kaukonen, J., Amati, P., Timonen, R., Haltia, M., Weissenbach, J., Zeviani, M., Somer, H., Peltonen, L. Nat. Genet. (1995) [Pubmed]
  13. Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome. Moraes, C.T., DiMauro, S., Zeviani, M., Lombes, A., Shanske, S., Miranda, A.F., Nakase, H., Bonilla, E., Werneck, L.C., Servidei, S. N. Engl. J. Med. (1989) [Pubmed]
  14. Resistance of a human ovarian cancer line to 5-fluorouracil associated with decreased levels of 5-fluorouracil in DNA. Chu, E., Lai, G.M., Zinn, S., Allegra, C.J. Mol. Pharmacol. (1990) [Pubmed]
  15. Receptor tyrosine kinase (RTK) inhibition is effective in chemosensitising EGFR-expressing drug resistant human ovarian cancer cell lines when used in combination with cytotoxic agents. Coley, H.M., Shotton, C.F., Ajose-Adeogun, A., Modjtahedi, H., Thomas, H. Biochem. Pharmacol. (2006) [Pubmed]
  16. A placebo-controlled crossover trial of creatine in mitochondrial diseases. Klopstock, T., Querner, V., Schmidt, F., Gekeler, F., Walter, M., Hartard, M., Henning, M., Gasser, T., Pongratz, D., Straube, A., Dieterich, M., Müller-Felber, W. Neurology (2000) [Pubmed]
  17. Muscle fatigue, lactate, and pyruvate in mitochondrial myopathy with progressive external ophthalmoplegia. Dengler, R., Wohlfarth, K., Zierz, S., Jobges, M., Schubert, M. Muscle Nerve (1996) [Pubmed]
  18. Dehydration from alcohols by polyion complex cross-linked chitosan composite membranes during evapomeation. Uragami, T., Yamamoto, S., Miyata, T. Biomacromolecules (2003) [Pubmed]
  19. Progressive external ophthalmoplegia and multiple mitochondrial DNA deletions. Van Goethem, G., Martin, J.J., Van Broeckhoven, C. Acta neurologica Belgica. (2002) [Pubmed]
  20. Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky. Nikali, K., Suomalainen, A., Saharinen, J., Kuokkanen, M., Spelbrink, J.N., Lönnqvist, T., Peltonen, L. Hum. Mol. Genet. (2005) [Pubmed]
  21. Mitogenic effects of epidermal growth factor and transforming growth factor-alpha on EGF-receptor positive human ovarian carcinoma cell lines. Crew, A.J., Langdon, S.P., Miller, E.P., Miller, W.R. Eur. J. Cancer (1992) [Pubmed]
  22. A new POLG1 mutation with peo and severe axonal and demyelinating sensory-motor neuropathy. Santoro, L., Manganelli, F., Lanzillo, R., Tessa, A., Barbieri, F., Pierelli, F., Di Giacinto, G., Nigro, V., Santorelli, F.M. J. Neurol. (2006) [Pubmed]
  23. Differential splicing of KLK5 and KLK7 in epithelial ovarian cancer produces novel variants with potential as cancer biomarkers. Dong, Y., Kaushal, A., Brattsand, M., Nicklin, J., Clements, J.A. Clin. Cancer Res. (2003) [Pubmed]
  24. Effect of Matrigel on the tumorigenicity of human breast and ovarian carcinoma cell lines. Mullen, P., Ritchie, A., Langdon, S.P., Miller, W.R. Int. J. Cancer (1996) [Pubmed]
  25. Coordinate induction of energy gene expression in tissues of mitochondrial disease patients. Heddi, A., Stepien, G., Benke, P.J., Wallace, D.C. J. Biol. Chem. (1999) [Pubmed]
  26. Effect of interferon gamma and tumour necrosis factor alpha on sensitivity to cisplatin in ovarian carcinoma cell lines. Clark, S., McGuckin, M.A., Hurst, T., Ward, B.G. Cancer Immunol. Immunother. (1994) [Pubmed]
  27. Coxsackievirus-adenovirus receptor expression in ovarian cancer cell lines is associated with increased adenovirus transduction efficiency and transgene expression. You, Z., Fischer, D.C., Tong, X., Hasenburg, A., Aguilar-Cordova, E., Kieback, D.G. Cancer Gene Ther. (2001) [Pubmed]
  28. Composition and dynamics of human mitochondrial nucleoids. Garrido, N., Griparic, L., Jokitalo, E., Wartiovaara, J., van der Bliek, A.M., Spelbrink, J.N. Mol. Biol. Cell (2003) [Pubmed]
  29. Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia. Longley, M.J., Clark, S., Yu Wai Man, C., Hudson, G., Durham, S.E., Taylor, R.W., Nightingale, S., Turnbull, D.M., Copeland, W.C., Chinnery, P.F. Am. J. Hum. Genet. (2006) [Pubmed]
  30. POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement. Van Goethem, G., Luoma, P., Rantamäki, M., Al Memar, A., Kaakkola, S., Hackman, P., Krahe, R., Löfgren, A., Martin, J.J., De Jonghe, P., Suomalainen, A., Udd, B., Van Broeckhoven, C. Neurology (2004) [Pubmed]
  31. Microdomain structure in polylactide-block-poly(ethylene oxide) copolymer films. Kubies, D., Rypácek, F., Kovárová, J., Lednický, F. Biomaterials (2000) [Pubmed]
  32. Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study. Luoma, P., Melberg, A., Rinne, J.O., Kaukonen, J.A., Nupponen, N.N., Chalmers, R.M., Oldfors, A., Rautakorpi, I., Peltonen, L., Majamaa, K., Somer, H., Suomalainen, A. Lancet (2004) [Pubmed]
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