[HTML][HTML] Three-dimensional clustering of human RAG2 gene mutations in severe combined immune deficiency

B Corneo, D Moshous, I Callebaut… - Journal of Biological …, 2000 - ASBMB
The V (D) J recombination, which leads to the somatic rearrangement of variable, diversity,
and joining segments, is the mechanism accountable for the diversity of T cell receptor-and
Ig-encoding genes. The products of the RAG1 andRAG2 genes are the lymphoid-specific
factors responsible for the initiation of the V (D) J recombination through the generation of a
DNA double strand break. RAG1 or RAG2 gene inactivation in the mouse leads to abortion
of the V (D) J rearrangement process, early block in both T and B cell maturation, and …