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LIG4

Friday 16 March 2007

Definition: ATP-dependent DNA ligase IV is involved in DNA double-strand break repair.

Pathology

- germline mutations in

  • LIG4 syndrome (MIM.606593)
  • T cell-negative, B cell-negative, NK cell-positive severe combined immunodeficiency with sensitivity to ionizing radiation (RS-SCID) (MIM.602450),

- variants in

  • developing multiple myeloma (MIM.254500)

See also

LIGs LIG1 LIG2 LIG3 LIG4

References

- Buck D, Moshous D, de Chasseval R, Ma Y, le Deist F, Cavazzana-Calvo M, Fischer A, Casanova JL, Lieber MR, de Villartay JP. Severe combined immunodeficiency and microcephaly in siblings with hypomorphic mutations in DNA ligase IV. Eur J Immunol. 2006 Jan;36(1):224-35. PMID: #16358361#

- van der Burg, M.; van Veelen, L. R.; Verkaik, N. S.; Wiegant, W. W.; Hartwig, N. G.; Barendregt, B. H.; Brugmans, L.; Raams, A.; Jaspers, N. G. J.; Zdzienicka, M. Z.; van Dongen, J. J. M.; van Gent, D. C. : A new type of radiosensitive T-B-NK+ severe combined immunodeficiency caused by a LIG4 mutation. J. Clin. Invest. 116: 137-145, 2006. PubMed ID : #16357942#

- Revy P, Buck D, le Deist F, de Villartay JP. The repair of DNA damages/modifications during the maturation of the immune system: lessons from human primary immunodeficiency disorders and animal models. Adv Immunol. 2005;87:237-95. PMID: #16102576#

- Ben-Omran, T. I.; Cerosaletti, K.; Concannon, P.; Weitzman, S.; Nezarati, M. M. : A patient with mutations in DNA ligase IV: clinical features and overlap with Nijmegen breakage syndrome. Am. J. Med. Genet. 137A: 283-287, 2005.

- O’Driscoll, M.; Cerosaletti, K. M.; Girard, P.-M.; Dai, Y.; Stumm, M.; Kysela, B.; Hirsch, B.; Gennery, A.; Palmer, S. E.; Seidel, J.; Gatti, R. A.; Varon, R.; Oettinger, M. A.; Neitzel, H.; Jeggo, P. A.; Concannon, P. :
DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency. Molec. Cell 8: 1175-1185, 2001.
PubMed ID : #11779494#