A quantitative measurement of the human somatic mutation rate

Cancer Research

Volumn 65, Issue 18, 2005, Pages 8111-8117

  Araten, David J ^a,d   Golde, David W ^a   Zhang, Rong H ^a   Thaler, Howard T ^a   Gargiulo, Lucia ^b   Notaro, Rosario ^a,b   Luzzatto, Lucio ^a,b,c  

^a MEMORIAL SLOAN KETTERING CANCER CENTER   (United States)

^b Istituto Nazionale per la Ricerca Sul Canero   (Italy)

^c UNIVERSITY OF GENOA   (Italy)

^d NEW YORK UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CD48 ANTIGEN; CD59 ANTIGEN; DECAY ACCELERATING FACTOR; GLYCOSYLPHOSPHATIDYLINOSITOL; MEMBRANE PROTEIN;

ACCURACY; ARTICLE; ATAXIA TELANGIECTASIA; B LYMPHOBLAST; CANCER RISK; CANCER SUSCEPTIBILITY; CELL CULTURE; CELL DIVISION; CONTROLLED STUDY; FANCONI ANEMIA; FLOW CYTOMETRY; GENE; GENE INACTIVATION; HUMAN; HUMAN CELL; LYMPHOBLASTOID CELL; MALIGNANT TRANSFORMATION; MEASUREMENT; MUTANT; NIJMEGEN BREAKAGE SYNDROME; PIG A GENE; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; SOMATIC CELL; SOMATIC MUTATION;

B-LYMPHOCYTES; CELL LINE; CELL TRANSFORMATION, NEOPLASTIC; FANCONI ANEMIA; FLOW CYTOMETRY; GENETIC PREDISPOSITION TO DISEASE; GLYCOSYLPHOSPHATIDYLINOSITOLS; HUMANS; MEMBRANE PROTEINS; MUTAGENESIS; MUTATION; PILOT PROJECTS; REPRODUCIBILITY OF RESULTS;

EID: 24944581966     PISSN: 00085472     EISSN: None     Source Type: Journal    
DOI: 10.1158/0008-5472.CAN-04-1198     Document Type: Article

References (55)

1. Luria SE, Delbrück M. Mutations of bacteria from virus sensitivity to virus resistance. Genetics 1943;28:491-511.
2. Ryan FJ, Wainwright LK. Nuclear segregation and the growth of clones of spontaneous mutants of bacteria. J Gen Microbiol 1954;11:364-79.
3. Novick A, Szilard L. Experiments with the chemostat on spontaneous mutations of bacteria. Proc Natl Acad Sci U S A 1950;36:708-19.
4. Drake JW. A constant rate of spontaneous mutation in DNA-based microbes. Proc Natl Acad Sci U S A 1991;88:7160-4.
5. Paquin C, Adams J. Frequency of fixation of adaptive mutations is higher in evolving diploid than haploid yeast populations. Nature 1983;307:495-500.
6. Knudson AG. Mutation and cancer: a statistical study of retinoblastoma. Proc Natl Acad Sci U S A 1971;68:820-3.
7. Kinzler KW, Vogelstein B. Lessons from hereditary colorectal cancer. Cell 1996;87:159-70.
8. DePinho RA. The age of cancer. Nature 2000;408:248-54.
9. Simpson AJG. The natural somatic mutation frequency and human carcinogenesis. Adv Cancer Res 1997;71:209-40.
10. Araten DJ, Nafa K, Pakdeesuwan K, Luzzatto L. Clonal populations of hematopoietic cells with paroxysmal nocturnal hemoglobinuria genotype and phenotype are present in normal individuals. Proc Natl Acad Sci U S A 1999;96:5209-14.
11. Miyata T, Takeda J, Iida Y, et al. The cloning of PIG-A, a component in the early step of GPI-anchor biosynthesis. Science 1993;259:1318-20.
12. Hillmen P, Bessler M, Mason PJ, Watkins WM, Luzzatto L. Specific defect in N-acetylglucosamine incorporation in the biosynthesis of the glycosylphosphatidylinositol anchor in cloned cell lines from patients with paroxysmal nocturnal hemoglobinuria. Proc Natl Acad Sci U S A 1993;90:5272-6.
13. Takeda J, Miyata T, Kawagoe K, et al. Deficiency of the GPI anchor caused by a somatic mutation of the PIG-A gene in paroxysmal nocturnal hemoglobinuria. Cell 1993;73:703-11.
14. Ware RE, Pickens CV, DeCastro CM, Howard TA. Circulating PIG-A mutant T lymphocytes in healthy adults and patients with bone marrow failure syndromes. Exp Hematol 2001;29:1403-9.
15. Chen R, Eshleman JR, Brodsky RA, Medof ME. Glycosylphosphatidylinositol- anchored protein deficiency as a marker of mutation phenotype in cancer. Cancer Res 2001;61:654-8.
16. Rawstron AC, Rollinson SJ, Richards S, et al. The PNH phenotype cells that emerge in most patients after CAMPATH-IH therapy are present prior to treatment. Br J Haematol 1999;107:148-53.
17. Araten DJ, Bessler M, McKenzie S, et al. Dynamics of hematopoiesis in paroxysmal nocturnal hemoglobinuria: no evidence for intrinsic growth advantage of PNH clones. Leukemia 2002;16:2243-8.
18. Rosti V, Tremml G, Soares V, Pandolfi PP, Luzzatto L. Murine embryonic stem cells without pig-a gene activity are competent for hematopoiesis with the PNH phenotype but not for clonal expansion. J Clin Invest 1997;100:1028-36.
19. Luzzatto L, Nafa K. Genetics of PNH. In: Young NS, Moss J, editors. PNH and the GPI-linked Proteins. San Diego: Academic Press; 2000. p. 21-47.
20. Hillmen P, Bessler M, Crawford DH, Luzzatto L. Production and characterization of lymphoblastoid cell lines with the paroxysmal nocturnal hemoglobinuria phenotype. Blood 1993;81:193-9.
21. Stent GS, Calendar R. Molecular Genetics. San Francisco, CA: WH Freeman and Company, 1978. p. 152-79.
22. Savitsky K, Bar-Shira A, Gilad S, et al. A single ataxia telangiectasia gene with a product similar to PI-3 kinase. Science 1995;268:1749-53.
23. Ellis NA, Groden J, Ye TZ, et al. The Bloom's syndrome gene product is homologous to RecQ helicases. Cell 1995;83:655-66.
24. Meyn MS, Lu-Kuo JM, Herzing LB. Expression cloning of multiple human cDNAs that complement the phenotypic defects of ataxia-telangiectasia group D fibroblasts. Am J Hum Genet 1993;53:1206-16.
25. Albertini RJ, Castle KL, Borcherding WR. T-cell cloning to detect the mutant 6-thioguanine-resistant lymphocytes present in human peripheral blood. Proc Natl Acad Sci U S A 1982;79:6617-21.
26. Morley AA, Trainor KJ, Seshadri R, Ryall RG. Measurement of in vivo mutations in human lymphocytes. Nature 1983;302:155-6.
27. Bigbee WL, Langlois RG, Swift M, Jensen RH. Evidence for an elevated frequency of in vivo somatic cell mutations in ataxia telangiectasia. Am J Hum Genet 1989;44:402-8.
28. Kyoizumi S, Nakamura N, Hakoda M, et al. Detection of somatic mutations at the glycophorin A locus in erythrocytes of atomic bomb survivors using a single beam flow sorter. Cancer Res 1989;49:581-8.
29. Grist SA, McCarron M, Kutlaca A, Turner DR, Morley AA. In vivo human somatic mutation: frequency and spectrum with age. Mutat Res 1992;266:189-96.
30. Kavathas P, Bach FH, DeMars R. Gamma ray-induced loss of expression of HLA, glyoxalase I alleles in lymphoblastoid cells. Proc Natl Acad Sci U S A 1980;77:4251-5.
31. Pious D, Hawley P, Forest G. Isolation and characterization of HL-A variants in cultured human lymphoid cells. Proc Natl Acad Sci U S A 1973;70:1397-400.
32. Umeki S, Suzuki T, Kusunoki Y, Seyama T, Fujita S, Kyoizumi S. Development of a mouse model for studying in vivo T-cell receptor mutations. Mutat Res 1997;393:37-46.
33. Albertini RJ, Nicklas JA, O'Neill JP, Robison SH. In vivo somatic mutations in humans: measurement and analysis. Annu Rev Genet 1990;24:305-26.
34. Seshadri R, Kutlaca RJ, Trainor K, Matthews C, Morley AA. Mutation rate of normal and malignant human lymphocytes. Cancer Res 1987;47:407-9.
35. Kendal WS, Frost P. Pitfalls and practice of Luria-Delbruck fluctuation analysis: a review. Cancer Res 1988;48:1060-5.
36. Chen R, Nagarajan S, Prince GM, et al. Impaired growth and elevated Fas receptor expression in PIG-A+ stem cells in primary paroxysmal nocturnal hemoglobinuria. J Clin Invest 2000;106:689-96.
37. Bachl J, Carlson C, Gray-Schopfer V, Dessing M, Olsson C. Increased transcription levels induce higher mutation rates in a hypermutating cell line. J Immunol 2001;166:5051-7.
38. Green MHL, O'Neill JP, Cole J. Suggestions concerning the relationship between mutant frequency and mutation rate at the hprt locus in human peripheral T-lymphocytes. Mutat Res 1995;334:323-39.
39. Papadopoulo D, Guillhouf C, Mohrenweiser H, Moustacchi E. Hypomutability in Fanconi anemia cells is associated with increased deletion frequency at the HPRT locus. Proc Natl Acad Sci U S A 1990;87:8383-7.
40. Sala-Trepat M, Boyse J, Richard P, Papadopoulo D, Moustacchi E. Frequencies of HPRT- lymphocytes and glycophorin A variant erythrocytes in Fanconi anemia patients, their parents, and control donors. Mutat Res 1993;289:115-26.
41. Paganin C, Monos DS, Marshall JD, Frank I, Trinchieri G. Frequency and cytokine profile of HPRT mutant T cells in HIV-infected and healthy donors: implications for T cell proliferation in HIV disease. J Clin Invest 1997;99:663-8.
42. Hattori H, Machii T, Ueda E, Shibano M, Kageyama T, Kitani T. Increased frequency of somatic mutations at glycophorin A loci in patients with aplastic anaemia, myelodysplastic syndrome, and paroxysmal nocturnal haemoglobinuria. Br J Haematol 1997;98:384-91.
43. Cole J, Artlett CF. Cloning efficiency and spontaneous mutant frequency in circulating T-lymphocytes in ataxia-telangiectasia. Int J Radiat Biol 1994;66:S123-31.
44. Aurias A, Dutrillaux B, Buriot D, Lejeune J. High frequencies of inversions and translocations of chromosomes 7 and 14 in ataxia-telangiectasia. Mutat Res 1980;69:369-74.
45. Taalman RDFM, Hustinx TWJ, Weemaes CMR, et al. Further delineation of the Nijmegen breakage syndrome. Am J Med Genet 1989;32:425-31.
46. Tauchi H, Matsuura S, Kobayashi J, Sakamoto SKK. Nijmegen breakage syndrome NBS1 and molecular links to factors for genomic stability. Oncogene 2002;21:8980.
47. Morrell D, Cromartie E, Swift M. Mortality and cancer incidence in 263 patients with ataxia-telangiectasia. J Natl Cancer Inst 1986;77:89-92.
48. De Winter JP, Waisfisz Q, Rooimans MA, et al. The Fanconi anaemia group G gene FANCG is identical with XRCC9. Nat Genet 1998;20:281-3.
49. Joenge H, Levitus M, Waisfisz Q, et al. Complementation analysis in Fanconi anemia: assignment of the reference FA-H patient to group A. Am J Hum Genet 2000;67:759-62.
50. Yamashita T, Barber DL, Zhu Y, Wu N, D'Andrea AD. The Fanconi anemia polypeptide FACC is localized to the cytoplasm. Proc Natl Acad Sci U S A 1994;91:6712-6.
51. Timmers C, Taniguchi T, Hejna J, et al. Positional cloning of a novel Fanconi anemia gene FANCD2. Mol Cell 2001;7:241-8.
52. Howlett NG, Taniguchi T, Olson S, et al. Biallelic inactivation of BRCA2 in Fanconi anemia. Science 2002;297:606-9.
53. Telatar M, Wang Z, Udar N, et al. Ataxia-telangiectasia: mutations in ATM cDNA detected by protein-truncation screening. Am J Hum Genet 1996;59:40-4.
54. Gilad S, Khosravi R, Shkedy D, et al. Predominance of null mutations in ataxia-telangiectasia. Hum Mol Genet 1996;5:433-9.
55. Wright J, Teraoka S, Onengut S, et al. A high frequency of distinct ATM gene mutations in ataxia-telangiectasia. Am J Hum Genet 1996;59:839-46.