Signal joint formation is inhibited in murine scid preB cells and fibroblasts in substrates with homopolymeric coding ends

Molecular Immunology

Volumn 36, Issue 8, 1999, Pages 551-558

  Sun, Tianhe ^a   Ezekiel, Uthayashanker R ^a   Erskine, Leslie ^b   Agulo, Ryan ^a   Bozek, Grazyna ^a   Roth, David ^b   Storb, Ursula ^a  

^a UNIVERSITY OF CHICAGO   (United States)

^b HOWARD HUGHES MEDICAL INSTITUTE   (United States)

Author keywords

Immunoglobulin gene rearrangement; Murine scid; Severe combined immunodeficiency

Indexed keywords

ANIMAL CELL; ARTICLE; B LYMPHOCYTE; CELL MATURATION; COMBINED IMMUNODEFICIENCY; FIBROBLAST; GENE REARRANGEMENT; GENETIC RECOMBINATION; MOUSE; NONHUMAN; PATHOGENESIS; PRE B LYMPHOCYTE; PRIORITY JOURNAL; RAT; RECEPTOR GENE; SIGNAL TRANSDUCTION; T LYMPHOCYTE;

ANIMALS; B-LYMPHOCYTES; BASE SEQUENCE; CELL LINE; DNA; DNA PRIMERS; DNA-ACTIVATED PROTEIN KINASE; DNA-BINDING PROTEINS; FIBROBLASTS; GENE REARRANGEMENT, B-LYMPHOCYTE; GENES, IMMUNOGLOBULIN; HEMATOPOIETIC STEM CELLS; MICE; MICE, SCID; PLASMIDS; POLYMERASE CHAIN REACTION; PROTEIN-SERINE-THREONINE KINASES; RECOMBINATION, GENETIC; SEVERE COMBINED IMMUNODEFICIENCY; TRANSFECTION;

ANIMALIA; MURINAE;

EID: 0032789128     PISSN: 01615890     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0161-5890(99)00053-X     Document Type: Article

References (37)

1. Blunt T., Finnie N., Taccioli G., Smith G., Demengeot J., Gottlieb T., Mizuta R., Varghese A., Alt F., Jeggo P., Jackson S. Defective DNA-dependent protein kinase activity is linked to V(D)J recombination and DNA repair defects associated with the murine scid mutation. Cell. 80:1995;813-823.
2. Bogue M.A., Jhappan C., Roth D.B. Analysis of variable (diversity) joining recombination in DNA-dependent protein kinase (DNA-PK)-deficient mice reveals DNA-PK-independent pathways for both signal and coding joint formation. Proc. Acad. Natl. Sci. USA. 95:1998;15559-15564.
3. Bosma M.J., Carroll A.M. The scid mouse mutant: definition, characterization, and potential uses. Ann. Rev. Immunol. 9:1991;323-344.
4. Boubnov N.V., Wills Z.P., Weaver D.T. V(D)J recombination coding junction formation without DNA homology: processing of coding termini. Mol. Cell. Biol. 13:1993;6957-6968.
5. Boubnov N., Hall K., Wills Z., Lee S., He D., Benjamin D., Pulaski C., Band H., Reeves W., Hendrickson E., Weaver D. Complementation of the ionizing radiation sensitivity, DNA end binding, and V(D)J recombination defects of double-strand break repair mutants by the p86 Ku autoantigen. Proc. Natl. Acad. Sci. USA. 92:1995;890-894.
6. Danska J., Holland D., Mariathasan S., Williams K., Guidos C. Biochemical and genetic defects in the DNA-dependent protein kinase in murine scid lymphocytes. Mol. Cell. Biol. 16:1996;5507-5517.
7. Eastman M., Leu T., Schatz D. Initiation of V(D)J recombination in vitro obeying the 12/23 rule. Nature. 380:1996;85-88.
8. Engler P., Storb U. High-frequency deletional rearrangements of immunoglobulin kappa gene segments introduced into a pre-B cell line. Proc. Natl. Acad. Sci. USA. 84:1987;4949-4953.
9. Ezekiel U., Engler P., Stern D., Storb U. Asymmetric processing of coding ends and the effect of coding end nucleotide composition on V(D)J recombination. Immunity. 2:1995;381-389.
10. Ezekiel U., Sun T., Bozek G., Storb U. The composition of coding joints formed in V(D)J recombination is strongly affected by the nucleotide sequence of the coding ends and their relationship to the recombination signal sequences. Mol. Cell. Bio. 17:1997;4191-4197.
11. Finnie N., Gottlieb T., Blunt T., Jeggo P., Jackson S. DNA-dependent protein kinase activity is absent in xrs-6 cells: implications for site-specific recombination and DNA double-strand break repair. Proc. Natl. Acad. Sci. USA. 92:1995;320-324.
12. Gao Y., Chaudhuri J., Zhu C., Davidson L., Weaver D., Alt F. A targeted DNA-PKcs-null mutation reveals DNA-PK-independent functions for ku in V(D)J recombination. Immunity. 9:1998;367-376.
13. Gerstein R.M., Lieber M.R. Coding end sequence can markedly affect the initiation of V(D)J recombination. Genes and Development. 7:1993;1459-1469.
14. Han J-O., Steen S.B., Roth D.B. Ku86 is not required for protection of signal ends or for formation of nonstandard V(D)J recombination products. Mol. Cell. Biol. 17:1997;2226-2234.
15. Hiom K., Gellert M. Assembly of a 12/23 paired signal complex: a critical control point in V(D)J recombination. Mol. Cell. 1:1998;1011-1019.
16. Jeggo P., Taccioli G., Jackson S. Menage a trois: double strand break repair, V(D)J recombination and DNA-PK. Bioessays. 17:1995;949-957.
17. Kirchgessner C., Patil C., Evans J., Cuomo C., Fried L, Carter T., Oettinger M., Brown J. DNA-dependent kinase (p350) as a candidate gene for the murine SCID defect. Science. 267:1995;1178-1182.
18. Lewis S.M. The mechanism of V(D)J joining: lessons from molecular, immunological and comparative analyses. Adv. Immunol. 56:1994;27-150.
19. Lieber M.R., Hesse J.E., Lewis S., Bosma G.C., Rosenberg N., Mizuuchi K., Bosma M.J., Gellert M. The defect in murine severe combined immunodeficiency: joining of signal sequences but not coding segments in V(D)J recombination. Cell. 55:1988;7-16.
20. McBlane F., van Gent D., Ramsden D., Romeo C., Cuomo C., Gellert M., Oettinger M. Cleavage at a V(D)J recombination signal requires only RAG1 and RAG2 proteins and occurs in two steps. Cell. 83:1995;387-395.
21. Pergola F., Zdzienicka M.Z., Lieber M.R. V(D)J recombination in mammalian cell mutants defective in DNA double-strand break repair. Mol. Cell. Biol. 13:1993;3464-3471.
22. Rathmell W.K., Chu G. A DNA end-binding factor involved in double-strand break repair and V(D)J recombination. Mol. Cell. Biol. 14:1994;4741-4748.
23. Roth D.B., Menetski P.B., Nakajima P.B., Bosma M.J., Gellert M. V(D)J recombination: broken DNA molecules with covalently sealed (hairpin) coding ends in scid mouse thymocytes. Cell. 70:1992;983-991.
24. Roth D.B., Zhu C., Gellert M. Characterization of broken DNA molecules associated with V(D)J recombination. Proc. Natl. Acad. Sci. USA. 90:1993;10,788-10,792.
25. Roth D., Lindahl T., Gellert M. How to make ends meet. Current Biology. 5:1995;496-498.
26. Sadofsky M.J., Hesse J.E., McBlane J.F., Gellert M. Expression and V(D)J recombination activity of mutated RAG-1 proteins. Nucleic Acids Research. 21:1993;5644-5650.
27. Sadofsky M., Hesse J., van Gent D., Gellert M. RAG1 mutations that affect the target specifity of V(D)J recombination: a possible direct role of RAG1 in site recognition. Genes and Developments. 9:1995;2193-2199.
28. Schuler W., Weiler I.J., Schuler A., Philips R.A., Rosenberg N., Mak T.W., Kearney J.F., Perry R., Bosma M.J. Rearrangement of antigen receptor genes is defective in mice with severe combined immune deficiency. Cell. 46:1986;963-972.
29. Steen S.B., Gomelsky L., Roth D.B. The 12/23 rule is enforced at the cleavage step of V(D)J recombination in vivo. Genes to Cells. 1:1996;543-553.
30. Steen S.B., Gomelsky L., Speidel S.L., Roth D.B. Initiation of V(D)J recombination in vivo: role of recombination signal sequences in formation of single and paired double-strand breaks. EMBO J. 16:1997;2656-2664.
31. Taccioli G.E., Rathbun G., Olt E., Stamato T., Jeggo P.A., Alt F.W. Impairment of V(D)J recombination in double-strand break repair mutants. Science. 260:1993;207-210.
32. Taccioli G.E., Cheng H-L., Varghese A.J., Whitmore G., Alt F.W. A DNA repair-defect in chinese hamster ovary cells affects V(D)J recombination similarly to the murine scid mutation. J. of Bio. Chem. 269:1994;7439-7442.
33. Taccioli G.E., Gottlieb T.M., Blunt T., Priestly A., Demengeot J., Mizuta R., Lehmann A.R., Alt F.W., Jackson S.P., Jeggo P.A. Ku80: Product of the XRCC5 gene and its role in DNA repair and V(D)J recombination. Science. 265:1994;1442-1445.
34. Taccioli G., Amatucci A., Beamish H., Gell D., Xiang X., Torres Arzayus M., Priestley A., Jackson S., Marshak Rothstein A., Jeggo P.A., Herrera L. Targeted disruption of the catalytic subunit of the DNA-PK gene in mice confers severe combined immunodeficiency and radiosensitivity. Immunity. 9:1998;355-366.
35. Zdzienicka M. Mammalian mutants defective in the response to ionizing radiation-induced DNA damage. Mutation Research. 336:1995;202-215.
36. Zhu C., Roth D.B. Characterization of coding ends in thymocyte of scid mice: implications for the mechanism of V(D)J recombination. Immunity. 2:1994;101-112.
37. Zhu C., Bogue M.A., Lim D-S., Hasty P., Roth D.B. Ku86-Deficient mice exhibit severe combined immunodeficiency and defective processing of V(D)J recombination intermediates. Cell. 86:1996;379-389.