Abstract：
:V(D)J recombination not only comprises the molecular mechanism that insures diversity of the immune system but also constitutes a critical checkpoint in the developmental program of B- and T-lymphocytes. The analysis of human patients with Severe Combined Immune Deficiency (SCID) has contributed to the understanding of the biochemistry of the V(D)J recombination reaction. The molecular study V(D)J recombination settings in humans, mice and in cellular mutants has allowed to unravel the process of Non Homologous End Joining (NHEJ), one of the key pathway that insure proper repair of DNA double strand breaks (dsb), whether they occur during V(D)J recombination or secondary to other DNA injuries. Two NHEJ factors, Artemis and Cernunnos, were indeed discovered through the study of human V(D)J recombination defective human SCID patients.
journal_name
Adv Exp Med Bioljournal_title
Advances in experimental medicine and biologyauthors
de Villartay JPdoi
10.1007/978-1-4419-0296-2_4subject
Has Abstractpub_date
2009-01-01 00:00:00pages
46-58eissn
0065-2598issn
2214-8019journal_volume
650pub_type
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