Unraveling the consecutive recombination events in the human IGK locus
| Autor: | Anneke de Torbal, Ulrich Jäger, Anton W. Langerak, Brenda Verhaaf, Ellen J. van Gastel-Mol, Bertrand Nadel, Jacques J.M. van Dongen, Ingrid L. M. Wolvers-Tettero |
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| Rok vydání: | 2004 |
| Předmět: |
Genetic Markers
Lymphoma B-Cell Immunology Molecular Sequence Data Palatine Tonsil Immunoglobulin Variable Region Locus (genetics) Biology Lymphocyte Activation Polymerase Chain Reaction Immunoglobulin kappa-Chains Cell Line Tumor medicine Leukemia B-Cell Immunology and Allergy Recombination signal sequences Gene Rearrangement B-Lymphocyte Light Chain Humans Cell Lineage Allele Gene B cell Cells Cultured Genetics Recombination Genetic Base Sequence Gene rearrangement Molecular biology Gene Expression Regulation Neoplastic Allelic exclusion medicine.anatomical_structure Immunoglobulin J-Chains Recombination |
| Zdroj: | Journal of immunology (Baltimore, Md. : 1950). 173(6) |
| ISSN: | 0022-1767 |
| Popis: | In addition to the classical Vκ-Jκ, Vκ-κ deleting element (Kde), and intron-Kde gene rearrangements, atypical recombinations involving Jκ recombination signal sequence (RSS) or intronRSS elements can occur in the Igκ (IGK) locus, as observed in human B cell malignancies. In-depth analysis revealed that atypical JκRSS-intronRSS, Vκ-intronRSS, and JκRSS-Kde recombinations not only occur in B cell malignancies, but rather reflect physiological gene rearrangements present in normal human B cells as well. Excision circle analysis and recombination substrate assays can discriminate between single-step vs multistep rearrangements. Using this combined approach, we unraveled that the atypical Vκ-intronRSS and JκRSS-Kde pseudohybrid joints most probably result from ongoing recombination following an initial aberrant JκRSS-intronRSS signal joint formation. Based on our observations in normal and malignant human B cells, a model is presented to describe the sequential (classical and atypical) recombination events in the human IGK locus and their estimated relative frequencies (0.2–1.0 vs |
| Databáze: | OpenAIRE |
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