title: Immunoglobulin kappa gene rearrangements between the kappa deleting element and Jkappa recombination signal sequences in acute lymphoblastic leukemia and normal hematopoiesis.
abstract: The kappa deleting element (kappaDE) located 24 kb downstream of the Ckappa gene segment mediates the deletion of Ckappa and the Jkappa-Ckappa Intron enhancer, which results in allelic exclusion of the immunoglobulin kappa light chain locus. We here report that the kappaDE can recombine to each recombination signal sequence (RSS) flankappaing Jkappa1 to Jkappa5 in normal hematopoiesis. Moreover, usage of the JkappaRSS-kappaDE junctional sequence allows the detection of minimal residual disease in acute lymphoblastic leukemia.
authors.affiliation: Institute of Human Genetics, University of Heidelberg, Germany.
authors.forename: T
authors.initials: T
authors.lastname: Seriu
authors.forename: T E
authors.initials: TE
authors.lastname: Hansen-Hagge
authors.forename: Y
authors.initials: Y
authors.lastname: Stark
authors.forename: C R
authors.initials: CR
authors.lastname: Bartram
mesh_terms: D015139:Blotting, Southern; D002648:Child; D004254:DNA Nucleotidyltransferases / Q000378:metabolism; D015328:Gene Rearrangement, B-Lymphocyte, Light Chain; D005803:Genes, Immunoglobulin; D006410:Hematopoiesis / Q000235:genetics*; D006801:Humans; D007144:Immunoglobulin J-Chains / Q000235:genetics*; D007145:Immunoglobulin kappa-Chains / Q000235:genetics*; D009363:Neoplasm Proteins / Q000235:genetics* / Q000378:metabolism; D018365:Neoplasm, Residual; D016133:Polymerase Chain Reaction; D015452:Precursor B-Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics* / Q000473:pathology; D012045:Regulatory Sequences, Nucleic Acid; D045567:VDJ Recombinases
chemical_list: D007144:Immunoglobulin J-Chains; D007145:Immunoglobulin kappa-Chains; D009363:Neoplasm Proteins; D004254:DNA Nucleotidyltransferases; D045567:VDJ Recombinases