Immunological diagnosis of Werner syndrome by down-regulated and truncated gene products

Human Genetics

Volumn 105, Issue 4, 1999, Pages 301-307

  Goto, Makoto ^a   Yamabe, Yukako ^b   Shiratori, Miwa ^b   Okada, Masako ^b   Kawabe, Tamae ^b   Matsumoto, Takehisa ^b   Sugimoto, Masanobu ^b   Furuichi, Yasuhiro ^b  

^a Toshima ku   (Japan)

^b AGENE Research Institute   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; HELICASE; MONOCLONAL ANTIBODY;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CANCER RISK; CELL LINE; CLINICAL ARTICLE; CONTROLLED STUDY; DOWN REGULATION; EPSTEIN BARR VIRUS; FEMALE; GENE MUTATION; GENE SEQUENCE; HUMAN; IMMUNOBLOTTING; INTERMETHOD COMPARISON; MALE; PREMATURE AGING; PRIORITY JOURNAL; SYMPTOM; WERNER SYNDROME;

EID: 0032848570     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004399900151     Document Type: Article

References (25)

1. Delahunty C, Ankener W, Deng Q, Eng J, Nickerson DA (1996) Testing the feasibility of DNA typing for human identification by PCR and an oligonucleotide ligation assay. Am J Hum Genet 58:1239-1246
2. Epstein CJ, Martin GM, Schultz AL, Motulsky AG (1966) Werner's syndrome a review of its symptomatology, natural history, pathologic features, genetics and relationship to the natural aging process. Medicine (Baltimore) 45:177-221
3. Goto M (1997) Hierarchical deterioration of body systems in Werner's syndrome: implications for normal ageing. Mech Ageing Dev 98:239-254
4. Goto M, Tanimoto K, Horiuchi Y, Sasazuki T (1981) Family analysis of Werner's syndrome: a survey of 42 Japanese families with a review of the literature. Clin Genet 19:8-15
5. Goto M, Miller RW, Ishikawa Y, Sugano H (1996) Excess of rare cancers in Werner syndrome (adult progeria). Cancer Epidemiol Biomarkers Prev 5:239-246
6. James K, Bell GT (1987) Human monoclonal antibody production. Current status and future prospects. J Immunol Methods 100: 5-40
7. Maquat LE (1995) When cells stop making sense: effects of non-sense codons on RNA metabolism in vertebrate cells. RNA 1: 453-465
8. Maquat LE (1996) Defects in RNA splicing and the consequence of shortened translational reading frames. Am J Hum Genet 59: 279-286
9. Matsumoto T, Imamura O, Yamabe Y, Kuromitsu J, Tokutake Y, Shimamoto A, Suzuki N, Satoh M, Kitao S, Ichikawa K, Kataoka H, Sugawara K, Thomas W, Mason B, Tsuchihashi Z, Drayna D, Sugawara M, Sugimoto M, Furuichi Y, Goto M (1997a) Mutation and haplotype analyses of the Werner's syndrome gene based on its genomic structure: genetic epidemiology in the Japanese population. Hum Genet 100:123-130
10. Matsumoto T, Shimamoto A, Goto M, Furuichi Y (1997b) Impaired nuclear localization of defective DNA helicases in Werner's syndrome. Nat Genet 16: 335-336
11. Matsumoto T, Tsuchihashi Z, Ito C, Fujita K, Goto M, Furuichi Y (1998) Genetic diagnosis of Werner's syndrome, a premature aging disease, by mutant allele specific amplification (MASA) and oligomer ligation assay (OLA). J Anti-aging Med 1:131-140
12. Meisslitzer C, Ruppitsch W, Weirich-Schwaiger H, Weirich HG, Jabkowsky J, Klein G, Schweiger M, Hirsch-Kauffmann M (1997) Werner syndrome: characterization of mutations in the WRN gene in an affected family. Eur J Hum Genet 5:364-370
13. Miller G (1990) Epstein-Barr virus biology, pathogenesis and medical aspects. In: Fields BN, Knipe KM (ed) Virology. Raven, New York, pp 1921-1958
14. Nakura J, Wijsman EM, Miki T, Kamino K, Yu CE, Oshima J, Fukuchi K, Weber JL, Piussan C, Melaragno MI, et al (1994) Homozygosity mapping of the Werner syndrome locus (WRN). Genomics 23:600-608
15. Ogburn CE, Oshima J, Poot M, Chen R, Hunt KE, Gollahon KA, Rabinovitch PS, Martin GM (1997) An apoptosis-inducing genotoxin differentiates heterozygotic carriers for Werner helicase mutations from wild-type and homozygous mutants. Hum Genet 101:121-125
16. Oshima J, Yu CE, Piussan C, Klein G, Jabkowski J, Balci S. Miki T, Nakura J, Ogihara T, Ells J, Smith M, Melaragno MI, Fraccaro M, Scappaticci S, Matthews J, Ouais S, Jarzebowicz A, Schellenberg GD, Martin GM (1996) Homozygous and compound heterozygous mutations at the Werner syndrome locus. Hum Mol Genet 5:1909-1913
17. Satoh M, Imai M, Sugimoto M, Goto M, Furuichi Y (1999) Prevalence of Werner's syndrome heterozygotes in Japan . Lancet 353:1766
18. Shiratori M, Sakamoto S, Suzuki N, Tokutake Y, Kawabe Y, Enomoto T, Sugimoto M, Goto M, Matsumoto T, Furuichi Y (1999) Detection by epitope-defined monoclonal antibodies of Werner DNA helicases in the nucleoplasm and their upregulation by cell transformation and immortalization. J Cell Biol 144:1-9
19. Suzuki N, Shimamoto A, Imamura O, Kuromitsu J, Kitao S, Goto M, Furuichi Y (1997) DNA helicase activity in Werner's syndrome gene product synthesized in a baculovirus system. Nucleic Acids Res 25:2973-2978
20. Tahara H, Tokutake Y, Maeda S, Kataoka H, Watanabe T, Satoh M, Matsumoto T, Sugawara M, Ide T, Goto M, Furuichi Y, Sugimoto M (1997) Abnormal telomere dynamics of B-lymphoblastoid cell strains from Werner's syndrome patients transformed by Epstein-Barr virus. Oncogene 15:1911-1920
21. Takeda S, Ichii S, Nakamura Y (1993) Detection of K-ras mutation in sputum by mutant-allele-specific amplification (MASA). Hum Mutat 2:112-117
22. Wang LHK, Martin GM, Oshima J (1998) Structure and function of the human Werner syndrome gene promoter: evidence for transcriptional modulation. Nucleic Acids Res 26:3480-3485
23. Yamabe Y, Sugimoto M, Satoh M, Suzuki N, Sugawara M, Goto M, Furuichi Y (1997) Down-regulation of the defective transcripts of the Werner's syndrome gene in the cells of patients. Biochem Biophys Res Commun 236:151-154
24. Yu CE, Oshima J, Fu YH, Wijsman EM, Hisama F, Alisch R, Matthews S, Nakura J, Miki T, Ouais S, Martin GM, Mulligan J, Schellenberg GD (1996) Positional cloning of the Werner's syndrome gene. Science 272:258-262
25. Yu CE, Oshima J, Wijsman EM, Nakura J, Miki T, Piussan C, Matthews S, Fu YH, Mulligan J, Martin GM, Schellenberg GD (1997) Mutations in the consensus helicase domains of the Werner syndrome gene. Werner's Syndrome Collaborative Group. Am J Hum Genet 60:330-341