N-terminal truncated human RAG1 proteins can direct T-cell receptor but not immunoglobulin gene rearrangements.

@article{Noordzij2000NterminalTH,
  title={N-terminal truncated human RAG1 proteins can direct T-cell receptor but not immunoglobulin gene rearrangements.},
  author={Jeroen G. Noordzij and Nicole S. Verkaik and Nico G. Hartwig and Ronald de Groot and Dik C van Gent and Jacques JM van Dongen},
  journal={Blood},
  year={2000},
  volume={96 1},
  pages={203-9}
}
The proteins encoded by RAG1 and RAG2 can initiate gene recombination by site-specific cleavage of DNA in immunoglobulin and T-cell receptor (TCR) loci. We identified a new homozygous RAG1 gene mutation (631delT) that leads to a premature stop codon in the 5' part of the RAG1 gene. The patient carrying this 631delT RAG1 gene mutation died at the age of 5 weeks from an Omenn syndrome-like T(+)/B(- )severe combined immunodeficiency disease. The high number of blood T-lymphocytes (55 x 10(6)/mL… CONTINUE READING

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