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Artemis sheds new light on V(D)J recombination
Author(s) -
Le Deist Françoise,
Poinsig Catherine,
Moshous Despina,
Fischer Alain,
De Villartay JeanPierre
Publication year - 2004
Publication title -
immunological reviews
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 6.839
H-Index - 223
eISSN - 1600-065X
pISSN - 0105-2896
DOI - 10.1111/j.0105-2896.2004.00169.x
Subject(s) - v(d)j recombination , recombination activating gene , recombination , biology , recombinase , genetics , rag2 , recombination signal sequences , dna repair , immune system , dna , homologous recombination , gene
Summary: V(D)J recombination represents one of the three mechanisms that contribute to the diversity of the immune repertoire of B lymphocytes and T lymphocytes. It also constitutes a major checkpoint during the development of the immune system. Indeed, any V(D)J recombination deficiency leads to a block of B‐cell and T‐cell maturation in humans and animal models, leading to severe combined immunodeficiency (T‐B‐SCID). Nine factors have been identified so far to participate in V(D)J recombination. The discovery of Artemis, mutated in a subset of T‐B‐SCID, provided some new information regarding one of the missing V(D)J recombinase activities: hairpin opening at coding ends prior to DNA repair of the recombination activating genes 1/2‐generated DNA double‐strand break. New conditions of immune deficiency in humans are now under investigations and should lead to the identification of additional V(D)J recombination/DNA repair factors.