scholarly journals Comprehensive characterization of immunoglobulin gene rearrangements in patients with chronic lymphocytic leukaemia

2014 ◽  
Vol 18 (6) ◽  
pp. 979-990 ◽  
Author(s):  
Céline René ◽  
Nathalie Prat ◽  
Audrey Thuizat ◽  
Mélanie Broctawik ◽  
Odile Avinens ◽  
...  
Keyword(s):  
Chronic Lymphocytic Leukaemia ◽  
Lymphocytic Leukaemia ◽  
Gene Rearrangements ◽  
Immunoglobulin Gene ◽  
Comprehensive Characterization ◽  
Immunoglobulin Gene Rearrangements

Molecular Characterization of Immunoglobulin Gene Rearrangements in Diffuse Large B-Cell Lymphoma

2012 ◽  
Vol 181 (5) ◽  
pp. 1879-1888 ◽  
Author(s):  
Elena Sebastián ◽  
Miguel Alcoceba ◽  
Ana Balanzategui ◽  
Luis Marín ◽  
Santiago Montes-Moreno ◽  
...  
Keyword(s):  
B Cell ◽  
Molecular Characterization ◽  
Cell Lymphoma ◽  
B Cell Lymphoma ◽  
Gene Rearrangements ◽  
Immunoglobulin Gene ◽  
Large B Cell Lymphoma ◽  
Large B Cell ◽  
Immunoglobulin Gene Rearrangements

Immunoglobulin gene segment usage, location and immunogenicity in mutated and unmutated chronic lymphocytic leukaemia

2005 ◽  
Vol 129 (4) ◽  
pp. 499-510 ◽  
Author(s):  
Katja Mauerer ◽  
David Zahrieh ◽  
Gullu Gorgun ◽  
Aihong Li ◽  
Jianbiao Zhou ◽  
...  
Keyword(s):  
Chronic Lymphocytic Leukaemia ◽  
Lymphocytic Leukaemia ◽  
Gene Segment ◽  
Immunoglobulin Gene

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

Blood ◽  
2000 ◽  
Vol 96 (1) ◽  
pp. 203-209 ◽  
Author(s):  
Jeroen G. Noordzij ◽  
Nicole S. Verkaik ◽  
Nico G. Hartwig ◽  
Ronald de Groot ◽  
Dik C. van Gent ◽  
...  
Keyword(s):  
T Cell ◽  
Gene Mutation ◽  
T Cell Receptor ◽  
Severe Combined Immunodeficiency ◽  
Premature Stop Codon ◽  
Cell Receptor ◽  
Gene Rearrangements ◽  
Immunoglobulin Gene ◽  
Rag1 Gene ◽  
Immunoglobulin Gene Rearrangements

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 × 106/mL) showed an almost polyclonal TCR gene rearrangement repertoire not of maternal origin. In contrast, B-lymphocytes and immunoglobulin gene rearrangements were hardly detectable. We showed that the 631delT RAG1 gene can give rise to an N-terminal truncated RAG1 protein, using an internal AUG codon as the translation start site. Consistent with the V(D)J recombination in T cells, this N-terminal truncated RAG1 protein was active in a plasmid V(D)J recombination assay. Apparently, the N-terminal truncated RAG1 protein can recombine TCR genes but not immunoglobulin genes. We conclude that the N-terminus of the RAG1 protein is specifically involved in immunoglobulin gene rearrangements.

Chronic lymphocytic leukaemia

2010 ◽  
pp. 4240-4247
Author(s):  
Clive S. Zent ◽  
Aaron Polliack
Keyword(s):  
North America ◽  
Chronic Lymphocytic Leukaemia ◽  
B Lymphocyte ◽  
Lymphocytic Leukaemia ◽  
Immunoglobulin Gene ◽  
Cell Of Origin ◽  
Small Lymphocytic Lymphoma ◽  
Lymphoid Neoplasm ◽  
Surface Immunoglobulin

Chronic lymphocytic leukaemia/small lymphocytic lymphoma (CLL) is the most prevalent lymphoid neoplasm in Europe and North America. The ‘cell of origin’ is a mature B lymphocyte that has a rearranged immunoglobulin gene. CLL cells express modest amounts of surface immunoglobulin, and are characterized by defective apoptosis. The cause of CLL is unknown....

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