Nucleotide pool imbalance and adenosine deaminase deficiency induce alterations of N-region insertions during V(D)J recombination

Journal of Clinical Investigation

Volumn 103, Issue 6, 1999, Pages 833-841

  Gangi Peterson, Lisa ^a   Sorscher, David H ^a,c   Reynolds, Jon W ^a   Kepler, Thomas B ^b   Mitchell, Beverly S ^a  

^a UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^b NORTH CAROLINA STATE UNIVERSITY   (United States)

^c UNIVERSITY OF NORTH CAROLINA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE DEAMINASE; PURINE NUCLEOSIDE PHOSPHORYLASE;

ARTICLE; ENZYME DEFICIENCY; GENE SEQUENCE; GENETIC DISORDER; GENETIC RECOMBINATION; HUMAN; HUMAN CELL; LYMPHOID TISSUE; METABOLIC DISORDER; PRIORITY JOURNAL;

EID: 0033559365     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI4320     Document Type: Article

References (41)

1. Lewis, S.M. 1994. The mechanism ofV(D)J joining: lessons from molecular, immunological, and comparative analyses. Adv. Immunol. 56:27-150.
2. Thompson, C.B. 1995. Now insights into V(D)J recombination and its role in the evolution of the immune system. Immunity. 3:531-539.
3. Ramsden, D.A., and Gellert, M. 1995. Formation and resolution of double-strand break intermediates in V(D)J rearrangement. Genes Dev. 9:2409-2420.
4. Gilfillan, S., Dierich, A., Lemeur, M., Benoist, C., and Mathis, D. 1993. Mice lacking TdT: mature animals with an immature lymphocyte repertoire. Science. 261:1175-1178.
5. Komori, T., Okada, A., Stewart, V., and Alt, F.W. 1993. Lack of N regions in antigen receptor variable genes of TdT-deficient lymphocytes. Science. 261:1171-1174.
6. H fusions. Proc. Natl. Acad. Sci. USA. 79:4118-4122.
7. Roth, D.B., Chang, X.-B., and Wilson, J.H. 1989. Comparison of filler DNA at immune, nonimmune, and oncogenic rearrangements suggests multiple mechanisms of formation. Mol. Cell. Biol. 9:3049-3057.
8. Kallenbach, S., Doyen, N., Fanton, D.M., and Rougeon, F. 1992. Three lymphoid-specific factors account for all junctional diversity characteristics of somatic assembly of T-cell receptor and immunoglobulin genes. Proc. Natl. Acad. Sci. USA. 89:2799-2803.
9. Lewis, S.M., Gifford, A., and Baltimore, D. 1985. DNA elements are asymmetrically joined during the site-specific recombination of the κ immunoglobulin genes. Science. 228:677-685.
10. Lieber, M.R., Hesse, J.E., Mizuuchi, K., and Gellert, M. 1988. Lymphoid V(D)J recombination: nucleotide insertion at signal joints as well as coding joints. Proc. Natl. Sci. USA. 85:8588-8592.
11. Gerstein, R.M., and Lieber, M.R. 1993. Coding end sequence can markedly affect the initiation ofV(D)J recombination. Genes Dev. 7:1459-1469.
12. Gerstein, R.M., and Lieber, M.R. 1993. Extent to which homology can constrain coding exon junctional diversity in V(D)J recombination. Nature. 363:625-627.
13. Lafaille, J.J., DeCloux, A., Bonneville, M. Takagaki, Y., and Tonegawa, S. 1989. Junctional sequences of T cell receptor gamma delta genes: implications for gamma delta T cell lineages and for novel intermediates of V(D)J joining. Cell. 59:859-870.
14. Lee, A., and Hsu, E. 1995. Isolation and characterization of Xenopus terminal deoxynucleotidyl transferase. J. Immunol. 152:4500-4507.
15. Yang, B., Gathy, K.N., and Coleman, M.S. 1994. Mutational analysis of residues in the nucleotide binding domain of human terminal deoxynucleotidyl transferase. J. Biol. Chem. 269:11859-11868.
16. Yang, B., Gathy, K.N, and Coleman, M.S. 1995. T-cell specific avian TdT: characterization of the cDNA and recombinant enzyme. Nucleic Acids Res. 23:2041-2048.
17. Hershfield, M.S., and Mitchell, B.S. 1995. Immunodeficiency diseases caused by adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency. In The metabolic and molecular basis of inherited disease, Volume 2. McGraw-Hill. New York, NY. 1725-1768.
18. Seto, S., Carrera, C.J., Kubota, M., Wasson, D.B., and Carson, D.A. 1985. Mechanism of deoxyadenosine and 2-chlorodeoxyadenosine toxicity to nondividing human lymphocytes. J. Clin. Invest. 75:377-383.
19. Seto, S., Carrera, C.J., Wasson, D.B., and Carson, D.A. 1986. Inhibition of DNA repair by deoxyadenosine in resting human lymphocytes. J. Immunol. 136:2839-2843.
20. Hirschhorn, R. 1990. Adenosine deaminase deficiency. Immunodefic. Rev. 2:175-198.
21. Hirschhorn, R. 1993. Overview of biochemical abnormalities and molecular genetics ofadenosine deaminase deficiency. Pediatr. Res. 33:35s-41s.
22. Oettinger, M.A., Schatz, D.G., Gorka, C., and Baltimore, D. 1990. RAG-1 and RAG-2, adjacent genes that synergistically activate V(D)J recombination. Science. 248:1517-1523.
23. Gauss, G.H., and Lieber, M.R. 1993. Unequal signal and coding joint formation in human V(D)J recombination. Mol. Cell. Biol. 13:3900-3906.
24. Hesse, J.E., Lieber, M.R., Gellert, M., and Mizuuchi, K. 1987. Extrachromosomal substrates undergo inversion or deletion at immunoglobulin VDJ joining signals. Cell. 49:775-783.
25. Wilson, R.K. 1993. High-throughput purification of M13 templates for DNAsequencing. Biotechniques. 15:414-422.
26. Sherman, P.A., and Fyfe, J.A. 1989. Enzymatic assay for deoxyribonucleoside triphosphates using synthetic oligonucleotides as template primers. Anal. Biochem. 180:222-226.
27. Mattano, S.S., Palella, T.D., and Mitchell, B.S. 1990. Mutations induced at the hypoxanthine-guanine phosphoribosyltransferase locus of human T-lymphoblasts by perturbations of purine deoxynbonucleoside triphosphate pools. Cancer Res. 50:4566-4571.
28. Kepler, T.B., Borrero, M., Rugerio, B., McCray, S.K., and Clarke, S.H. 1996. Interdependence of N-strand choice and splice-site usage in V(D)J rearrangement J. Immunol. 157:4451-4457.
29. McBlane J.F., et al. 1995. Cleavage at a V(D)J recombination signal requires only RAG1 and RAG2 proteins and occurs in two steps. Cell. 83:387-395.
30. Van Gent, D.C., et al. 1995. Initiation of V(D)J recombination in a cell-free system. Cell 81:925-934.
31. Blunt, T., et al. 1995. Defective DNA-dependent protein kinase activity is linked to V(D)J recombination and DNA repair defects associated with the murine scid mutation. Cell. 80:813-823.
32. Jeggo, P.A., Taccioli, G.E., and Jackson, S.P. 1995. Menage a trois: double strand break repair, V(D)J recombination, and DNA-PK. Bioessays. 17:949-957.
33. Li, Z., et al. 1995. The XRCC4 gene encodes a novel protein involved in DNA double-strand break repair and V(D)J recombination. Cell. 83:1079-1089.
34. Taccioli, G.E., et al. 1993. Impairment of V(D)J recombination in double-strand break repair mutants. Science. 260:207-210.
35. Deibel, M.R., and Coleman, M.S. 1980. Biochemical properties of purified human terminal deoxynucleotidyl transferase. J. Biol. Chem. 255:4206-4212.
36. Robbins, D.J., Barkely, M.D., and Coleman, M.S. 1987. Interaction of terminal transferase with single-stranded DNA. J. Biol. Chem. 262:9494-9502.
37. Robbins, D.J., and Coleman, M.S. 1988. Initiator role of double stranded DNA in terminal transferase catalyzed polymerization reactions. Nucleic Acids Res. 16:2943-2957.
38. Cohen, A., et al. 1978. Deoxyadenosine triphosphate as a potentially toxic metabolite in adenosine deaminase deficiency. Proc. Natl. Acad. Sci. USA. 75:472-476.
39. Wilson, J.M., Mitchell, B.S., Daddona, P.E., and Kelley, W.N. 1979. Purinogenic immunodeficiency diseases. Differential effects of deoxyadenosine and deoxyguanosine on DNA synthesis in human T lymphoblasts. J. Clin. Invest. 64:1475-1484.
40. Ochs, H.D., et al. 1992. Antibody responses to bacteriophage φX174 in patients with ADA deficiency. Blood. 80:1163-1171.
41. Gauss, G.H., and Lieber, M.R. 1995. Mechanistic constraints on diversity in human V(D)J recombination. Mol. Cell. Biol. 16:258-269.