Lessons from human progeroid syndromes (original) (raw)

• Rose, M. R. Evolutionary Biology of Aging (Oxford Univ. Press, Oxford, 1991).
  Google Scholar
• Martin, G. M. Genetic Effects on Aging Vol. II (ed. Harrison, D. E.) 493–520 (Telford Press, Caldwell, NJ, 1990).
  Google Scholar
• Grist, S. A., McCarron, M., Kutlaca, A., Turner, D. R. & Morley, A. A. In vivo human somatic mutation: frequency and spectrum with age. Mutat. Res. 266, 189–196 (1992).
  Article CAS Google Scholar
• Martin, G. M. et al. Somatic mutations are frequent and increase with age in human kidney epithelial cells. Hum. Mol. Genet. 5, 215–221 (1996).
  Article CAS Google Scholar
• Crow, J. F. Spontaneous mutation in man. Mutat. Res. 437, 5–9 (1999).
  Article CAS Google Scholar
• Yu, C. E. et al. Positional cloning of the Werner's syndrome gene. Science 272, 258–262 ( 1996).
  Article ADS CAS Google Scholar
• Fukuchi, K., Martin, G. M. & Monnat, R. J. Jr Mutator phenotype of Werner syndrome is characterized by extensive deletions. Proc. Natl Acad. Sci. USA 86, 5893–5897 ( 1989). [Published erratum appears in Proc. Natl Acad. Sci. USA 86, 7994 (1989).]
  Article ADS CAS Google Scholar
• Epstein, C. J., Martin, G. M., Schultz, A. L. & Motulsky, A. G. Werner's syndrome a review of its symptomatology, natural history, pathologic features, genetics and relationship to the natural aging process. Med. Baltimore 45, 177–221 (1966).
  Article CAS Google Scholar
• Goto, M., Miller, R. W., Ishikawa, Y. & Sugano, H. Excess of rare cancers in Werner syndrome (adult progeria). Cancer Epidemiol. Biomarkers Prev. 5, 239– 246 (1996).
  CAS PubMed Google Scholar
• Gimbrone, M. A. Jr Endothelial dysfunction, hemodynamic forces, and atherosclerosis . Thromb. Haemost. 82, 722– 726 (1999).
  Article CAS Google Scholar
• Martin, G. M., Sprague, C. A. & Epstein, C. J. Replicative life-span of cultivated human cells. Effects of donor's age, tissue, and genotype. Lab. Invest. 23, 86–92 (1970).
  CAS PubMed Google Scholar
• Ogburn, C. E. et al. An apoptosis-inducing genotoxin differentiates heterozygotic carriers for Werner helicase mutations from wild-type and homozygous mutants . Hum. Genet. 101, 121– 125 (1997).
  Article CAS Google Scholar
• Castro, E. et al. Polymorphisms at the Werner locus: I. Newly identified polymorphisms, ethnic variability of 1367Cys/Arg, and its stability in a population of Finnish centenarians. Am. J. Med. Genet. 82, 399 –403 (1999).
  Article CAS Google Scholar
• Ye, L. et al. Association of a polymorphic variant of the Werner helicase gene with myocardial infarction in a Japanese population. Am. J. Med. Genet. 68, 494–498 ( 1997). [Published erratum appears in Am. J. Med. Genet. 70, 103 (1997).]
  Article CAS Google Scholar
• Huang, S. et al. The premature aging syndrome protein, WRN, is a 3′ 5′ exonuclease. Nature Genet. 20, 114– 116 (1998).
  Article CAS Google Scholar
• Shen, J. C. et al. Werner syndrome protein. I. DNA helicase and dna exonuclease reside on the same polypeptide. J. Biol. Chem. 273, 34139–34144 (1998).
  Article CAS Google Scholar
• Suzuki, N., Shiratori, M., Goto, M. & Furuichi, Y. Werner syndrome helicase contains a 5′ 3′ exonuclease activity that digests DNA and RNA strands in DNA/DNA and RNA/DNA duplexes dependent on unwinding. Nucleic Acids Res. 27, 2361–2368 (1999).
  Article CAS Google Scholar
• Poot, M., Hoehn, H., Runger, T. M. & Martin, G. M. Impaired S-phase transit of Werner syndrome cells expressed in lymphoblastoid cell lines. Exp. Cell Res. 202, 267–273 (1992).
  Article CAS Google Scholar
• Yan, H., Chen, C. Y., Kobayashi, R. & Newport, J. Replication focus-forming activity 1 and the Werner syndrome gene product . Nature Genet. 19, 375– 378 (1998).
  Article CAS Google Scholar
• Lebel, M., Spillare, E. A., Harris, C. C. & Leder, P. The Werner syndrome gene product co-purifies with the DNA replication complex and interacts with PCNA and topoisomerase I. J. Biol. Chem. 274, 37795–37799 (1999).
  Article CAS Google Scholar
• Gray, M. D. et al. The Werner syndrome protein is a DNA helicase. Nature Genet. 17, 100–103 (1997).
  Article CAS Google Scholar
• Cooper, M. P. et al. Ku complex interacts with and stimulates the Werner protein . Genes Dev. 14, 907–912 (2000).
  CAS PubMed PubMed Central Google Scholar
• Li, B. & Comai, L. Functional interaction between Ku and the Werner syndrome protein in DNA end processing. J. Biol. Chem. 275, 28349–28352 ( 2000).
  Article CAS Google Scholar
• Balajee, A. S. et al. The Werner syndrome protein is involved in RNA polymerase II transcription. Mol. Biol. Cell 10, 2655 –2668 (1999).
  Article CAS Google Scholar
• Blander, G. et al. Physical and functional interaction between p53 and the Werner's syndrome protein. J. Biol. Chem. 274, 29463 –29469 (1999).
  Article CAS Google Scholar
• Hanada, K. et al. RecQ DNA helicase is a suppressor of illegitimate recombination in Escherichia coli. Proc. Natl Acad. Sci. USA 94, 3860–3865 (1997).
  Article ADS CAS Google Scholar
• Yamagata, K. et al. Bloom's and Werner's syndrome genes suppress hyperrecombination in yeast sgs1 mutant: implication for genomic instability in human diseases . Proc. Natl Acad. Sci. USA 95, 8733– 8738 (1998).
  Article ADS CAS Google Scholar
• Fu, Y. H. et al. An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science 255, 1256– 1258 (1992).
  Article ADS CAS Google Scholar
• Tiscornia, G. & Mahadevan, M. S. Myotonic dystrophy: the role of the CUG triplet repeats in splicing of a novel DMPK exon and altered cytoplasmic DMPK mRNA isoform ratios. Mol. Cell 5, 959 –967 (2000).
  Article CAS Google Scholar
• Harley, H. G. et al. Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy. Am. J. Hum. Genet. 52, 1164–1174 ( 1993).
  CAS PubMed PubMed Central Google Scholar
• Harnshere, M. G. et al. Myotonic dystrophy: the correlation of (CTG) repeat length in leucocytes with age at onset is significant only for patients with small expansions. J. Med. Genet. 36, 59– 61 (1999).
  Google Scholar
• Klesert, T. R. et al. Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Nature Genet. 25, 105 –109 (2000).
  Article CAS Google Scholar
• Lee, A. T. & Cerami, A. Role of glycation in aging. Ann. NY Acad. Sci. 663, 63–70 (1992).
  Article ADS CAS Google Scholar
• Seip, M. & Trygstad, O. Generalized lipodystrophy, congenital and acquired (lipoatrophy). Acta Paediatr. Suppl. 413, 2–28 (1996).
  Article CAS Google Scholar
• Garg, A., Fleckenstein, J. L., Peshock, R. M. & Grundy, S. M. Peculiar distribution of adipose tissue in patients with congenital generalized lipodystrophy. J Clin. Endocrinol. Metab. 75, 358–361 (1992).
  CAS PubMed Google Scholar
• Garg, A., Chandalia, M. & Vuitch, F. Severe islet amyloidosis in congenital generalized lipodystrophy . Diabetes Care 19, 28– 31 (1996).
  Article CAS Google Scholar
• Westvik, J. Radiological features in generalized lipodystrophy. Acta Paediatr. Suppl. 413, 44–51 (1996).
  Article CAS Google Scholar
• Kuro-o, M. et al. Mutation of the mouse klotho gene leads to a syndrome resembling ageing. Nature 390, 45– 51 (1997).
  Article ADS CAS Google Scholar
• Martin, G. M. & Mian, I. New mice for old questions. Nature 390, 18–19 ( 1997).
  Article ADS CAS Google Scholar
• Garg, A. et al. A gene for congenital generalized lipodystrophy maps to human chromosome 9q34. J. Clin. Endocrinol. Metab. 84, 3390–3394 (1999).
  Article CAS Google Scholar
• Brown, W. T. Progeria: a human-disease model of accelerated ageing. Am. J Clin. Nutr. 55, 1222S–1224S ( 1992).
  Article CAS Google Scholar
• Oshima, J., Brown, W. T. & Martin, G. M. No detectable mutations at Werner helicase locus in progeria. Lancet 348, 1106 (1996).
  Article CAS Google Scholar
• Ly, D. H., Lockhart, D. J., Lerner, R. A. & Schultz, P. G. Mitotic misregulation and human ageing. Science 287 , 2486–2492 (2000).
  Article ADS CAS Google Scholar
• Allsopp, R. C. et al. Telomere length predicts replicative capacity of human fibroblasts . Proc. Natl Acad. Sci. USA 89, 10114– 10118 (1992).
  Article ADS CAS Google Scholar
• Wang, S., Nishigori, C., Yagi, T. & Takebe, H. Reduced DNA repair in progeria cells and effects of gamma-ray irradiation on UV-induced unscheduled DNA synthesis in normal and progeria cells. Mutat. Res. 256, 59–66 (1991).
  Article CAS Google Scholar
• Sohal, R. S. & Weindruch, R. Oxidative stress, caloric restriction, and aging. Science 273, 59– 63 (1996).
  Article ADS CAS Google Scholar
• Martin, G. M., Austad, S. N. & Johnson, T. E. Genetic analysis of aging: role of oxidative damage and environmental stresses. Nature Genet. 13, 25–34 (1996).
  Article CAS Google Scholar
• Martin, G. M. in Handbook of the Aging Brain (eds Wang, E. & Snyder, D. S.), 126–134 (Academic, New York, 1998).
  Google Scholar
• McKusick, V. A. Mendelian Inheritance in Man, 12th edn (Johns Hopkins Univ. Press, Baltimore, MD, 1998).
  Google Scholar
• Kitao S. et al. Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome. Nature Genet. 22, 82– 84 (1998).
  Article Google Scholar
• Vennos, E. M. et al. Rothmund-Thomson syndrome: review of the world literature . J Am. Acad. Dermatol. 7, 750– 762 (1992).
  Article Google Scholar
• Henning, K. A. et al. The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH. Cell 82, 555–564 ( 1995).
  Article CAS Google Scholar
• Troelstra, C. et al. ERCC6, a member of a subfamily of putative helicases, is involved in Cockayne's syndrome and preferential repair of active genes. Cell 71, 939–953 ( 1992).
  Article CAS Google Scholar
• Nance, M. A. & Berry, S. A. Cockayne syndrome: review of 140 cases. Am. J. Med. Genet. 42, 68– 84 (1992).
  Article CAS Google Scholar
• Savitsky, K. et al. A single ataxia telangiectasia gene with a product similar to PI-3 kinase. Science 268, 1749– 1753 (1995).
  Article ADS CAS Google Scholar
• Gatti, R. A. et al. Ataxia-telangiectasia: an interdisciplinary approach to pathogenesis . Medicine 70, 99–117 (1991).
  Article CAS Google Scholar
• Varon, R. et al. Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome. Cell 93, 467–476 (1998).
  Article CAS Google Scholar
• van der Burgt, I. et al. Nijmegen breakage syndrome. J. Med. Genet. 33, 20–32 (1996).
  Article Google Scholar