Leaky severe combined immunodeficiency and aberrant DNA rearrangements due to a hypomorphic RAG1 mutation.

@article{Giblin2009LeakySC,
  title={Leaky severe combined immunodeficiency and aberrant DNA rearrangements due to a hypomorphic RAG1 mutation.},
  author={William Giblin and Monalisa Chatterji and Gerwin Henri Westfield and Tehmina Masud and Brian K. Theisen and Huang Jian Cheng and Jeffrey J Devido and Frederick W Alt and David Oliver Ferguson and David G Schatz and Jo Ann M. Sekiguchi},
  journal={Blood},
  year={2009},
  volume={113 13},
  pages={
          2965-75
        }
}
The RAG1/2 endonuclease initiates programmed DNA rearrangements in progenitor lymphocytes by generating double-strand breaks at specific recombination signal sequences. This process, known as V(D)J recombination, assembles the vastly diverse antigen receptor genes from numerous V, D, and J coding segments. In vitro biochemical and cellular transfection studies suggest that RAG1/2 may also play postcleavage roles by forming complexes with the recombining ends to facilitate DNA end processing and… CONTINUE READING
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