Quantification of hprt gene deletions mediated by illegitimate V(D)J recombination in peripheral blood cells of humans

Environmental and Molecular Mutagenesis

Volumn 29, Issue 1, 1997, Pages 28-35

  Fuscoe, James C ^a   Vira, Lisa K ^a   Collard, Deborah D ^a   Moore, Martha M ^a  

^a U S ENVIRONMENTAL PROTECTION AGENCY   (United States)

Author keywords

Biological monitoring; hprt; Human somatic mutation; Illegitimate V(D)J recombination; Polymerase chain reaction

Indexed keywords

BIOCHEMICAL MARKER; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; RECOMBINASE;

ADULT; ARTICLE; BLOOD CELL; CONTROLLED STUDY; DNA SEQUENCE; FEMALE; GENE DELETION; GENE LOCUS; GENETIC MARKER; HUMAN; HUMAN CELL; MALE; POLYMERASE CHAIN REACTION; QUANTITATIVE ASSAY; STATISTICS; TECHNIQUE;

ADOLESCENT; ADULT; BASE SEQUENCE; DNA NUCLEOTIDYLTRANSFERASES; FEMALE; HUMANS; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; POLYMERASE CHAIN REACTION; REFERENCE VALUES; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION; VDJ RECOMBINASES;

EID: 0031046377     PISSN: 08936692     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-2280(1997)29:1<28::AID-EM4>3.0.CO;2-9     Document Type: Article

References (32)

1. Akira S, Okazahi K, Sakano H (1987): Two pairs of recombination signals are sufficient to cause immunoglobulin V(D)J joining. Science 238:1134-1138.
2. Albertini RJ, Castle KL, Borcherding WR (1982): T-cell cloning to detect the mutant 6-thioguanine-resistant lymphocytes present in human peripheral blood. Proc Natl Acad Sci USA 79:6617-6621.
3. Albertini RJ, Nicklas JA, O'Neill JP, Robbins SH (1990): In vivo somatic mutations in humans: Measurement and analysis. Annu Rev Genet 24:305-326.
4. Aplan PD, Lombardi DP, Ginsberg AM, Cossman J, Bertness VL, Kirsch IR (1990): Disruption of the human SCL locus by "illegitimate" V(D)J recombinase activity. Science 250:1426-1429.
5. Brown L, Cheng J-T, Chen Q, Siciliano MJ, Crist W, Buchanan G, Baer R (1990): Site-specific recombination of the tal-1 gene is a common occurrence in human T cell leukemia. EMBO J 9:3343-3351.
6. Chen C-L, Fuscoe JC, Liu Q, Relling MV (1996): Etoposide causes illegitimate V(D)J recombination in human lymphoid leukemic cells. Blood 88:2210-2218.
7. Cole J, Skopek TR (1994): Somatic mutant frequency, mutation rates and mutational spectra in the human population in vivo. Mutat Res 304:33-105.
8. Croce CM (1993): Molecular biology of lymphomas. Semin Oncol 20(Suppl 5):31-46.
9. Edwards A, Voss H, Rice P, Civitello A, Stegemann J, Schwager C, Zimmermann J, Erfle H, Caskey CT, Ansorge W (1990): Automated DNA sequencing of the human HPRT locus. Genomics 6:593-608.
10. Finette BA, Poseno T, Albertini RJ (1996): V(D)J recombinase-mediated hprt mutations in peripheral blood lymphocytes of normal children. Cancer Res 56:1405-1412.
11. Fuscoe JC, Setzer RW, Collard DD, Moore MM (1996): Quantification of t(14;18) in the lymphocytes of healthy adult humans as a possible biomarker for environmental exposures to carcinogens. Carcinogenesis 17:1013-1020.
12. Fuscoe JC, Zimmerman LJ, Harrington-Brock K, Burnette L, Moore MM, Nicklas JA, O'Neill JP, Albertini RJ (1992): V(D)J recombinase-mediated deletion of the hprt gene in T-lymphocytes from adult humans. Mutat Res 283:13-20.
13. Fuscoe JC, Zimmerman LJ, Harrington-Brock K, Moore MM (1994): Multiplex PCR analysis of in vivo-arising deletion mutations in the hprt gene of human T-lymphocytes. Environ Mol Mutagen 23:89-95.
14. Fuscoe JC, Zimmerman LJ, Lippert MJ, Nicklas JA, O'Neill JP, Albertini RJ (1991): V(D)J recombinase-like activity mediates hprt gene deletion in human fetal T-lymphocytes. Cancer Res 51:6001-6005.
15. Hockenbery D, Nunez G, Milliman C, Schreiber RD, Korsmeyer SJ (1990): Bcl-2 is an inner mitochondrial membrane protein that blocks programmed cell death. Nature 348:334-336.
16. Kogan SC, Doherty M, Gitschier J (1987): An improved method for prenatal diagnosis of genetic diseases by analysis of amplified DNA sequences. N Engl J Med 317:985-990.
17. Kronenberg M, Siu G, Hood LE, Shastri N (1986): The molecular genetics of the T-cell antigen receptor and T-cell antigen recognition. Annu Rev Immunol 4:529-591.
18. Kwok S (1990): Procedures to minimize PCR-product carry-over. In Innis MA, Gelfand DH, Sninsky JJ, White TJ (eds): "PCR Protocols, A Guide to Methods and Applications." San Diego: Academic Press, pp 142-145.
19. Labarca C, Paigen K (1980): A simple, rapid, and sensitive DNA assay procedure. Anal Biochem 102:344-352.
20. Lafaille JJ, DeCloux A, Bonneville M, Takagaki Y, Tonegawa S (1989): Junctional sequences of T cell receptor γ-δ genes: Implications for γ-δ T cell lineages and for a novel intermediate of V(D)J-joining. Cell 59:859-870.
21. Leder P, Battey J, Lenoir G, Moulding C, Murphy W, Potter H, Stewart T, Taub R (1983): Translocations among antibody genes in human cancer. Science 222:765-771.
22. Liu Y, Hernandez AM, Shibata D, Cortopassi GA (1994): BCL2 translocation frequency rises with age in humans. Proc Natl Acad Sci USA 91:8910-8914.
23. Manchester DK, Nicklas JA, O'Neill JP, Lippert MJ, Grant SG, Langlois RG, Moore DH, Jensen RH, Albertini RJ, Bigbee WL (1995): Sensitivity of somatic mutations in human umbilical cord blood to maternal environments. Environ Mol Mutagen 26:203-212.
24. McGinniss MJ, Nicklas JA, Albertini RJ (1989): Molecular analyses of in vivo hprt mutations in human T-lymphocytes: IV. Studies in newborns. Environ Mol Mutagen 14:229-237.
25. Morley AA, Trainor KJ, Seshadri R, Ryall RG (1983): Measurement of in vivo mutations in human lymphocytes. Nature 302:155-156.
26. NCI (1992): The emerging epidemic of non-Hodgkin's lymphoma: Current knowledge regarding etiological factors. Cancer Res 52(Suppl 19):5425s-5574s.
27. Nicklas JA, Hunter TC, O'Neill JP, Albertini RJ (1989): Molecular analyses of in vivo hprt mutations in human T-lymphocytes. III. Longitudinal study of hprt gene structural alterations and T-cell clonal origins. Mutat Res 215:147-160.
28. Rabbitts TH (1994): Chromosomal translocations in human cancer. Nature 372:143-149.
29. Sambrook J, Fritsch EF, Maniatis T (1989): "Molecular Cloning, A Laboratory Manual." Cold Spring Harbor, NY: Cold Spring Harbor Laboratory Press.
30. Tonegawa S (1983): Somatic generation of antibody diversity. Nature 302:575-581.
31. Tsujimoto Y, Gorham J, Cossman J, Jaffe E, Croce CM (1985): The t(14;18) chromosome translocations involved in B-cell neoplasms result from mistakes in VDJ joining. Science 229:1390-1393.
32. Zimmerman LJ, Fuscoe JC (1991): Direct DNA sequencing of PCR products. Environ Mol Mutagen 18:274-276.