title: Immunoglobulin kappa light chain germ-line transcripts in human precursor B lymphocytes.
abstract: B lymphoblastoid cell lines (BLCL), established from bone marrow and peripheral blood mononuclear cells from two severe combined immunodeficiency (SCID) patients, manifested a complete absence of genomic rearrangements of the immunoglobulin (Ig) heavy (H) and light (L) chain loci. The BLCL contained germ-line transcripts of the Ig kappa region locus of approximately 1.2 kilobase (kb). By cDNA cloning and sequence analysis the transcripts were shown to consist of a C kappa segment, a J kappa 1 gene segment, 160 base pairs (bp) of J kappa 1 5' intervening sequence, containing the heptamer/nonamer recombination recognition sequences and at the 5' end a 523-bp segment designated human kappa zero, The first 206 bp of this 5' segment were homologous to the reported murine kappa zero region. Genomic restriction mapping and DNA sequence analysis demonstrated that the human kappa zero segment is located approximately 4 kb upstream of J kappa 1. The kappa zero segment contains a putative promoter region with an OCT2 binding site, and has a splice donor site to accomplish splicing to an acceptor site 160 bp upstream of J kappa 1. Expression of the kappa zero gene segment was found in BLCL derived from normal fetal bone marrow, in which both Ig kappa loci were in the germ-line configuration. These findings indicate that the described transcripts are not only present in SCID, but also in normal developing pre-B lymphocytes. The expression of germ-line Ig kappa L chain transcripts may be associated with the locus becoming accessible to gene rearrangement.
authors.affiliation: Department of Immunohaematology, University Hospital, Leiden, The Netherlands.
authors.forename: A
authors.initials: A
authors.lastname: Thompson
authors.forename: E
authors.initials: E
authors.lastname: Timmers
authors.forename: M J
authors.initials: MJ
authors.lastname: Kenter
authors.forename: M E
authors.initials: ME
authors.lastname: Kraakman
authors.forename: R W
authors.initials: RW
authors.lastname: Hendriks
authors.forename: R K
authors.initials: RK
authors.lastname: Schuurman
mesh_terms: D001402:B-Lymphocytes / Q000276:immunology*; D001483:Base Sequence; D002460:Cell Line; D002874:Chromosome Mapping; D017124:Conserved Sequence; D005803:Genes, Immunoglobulin; D006412:Hematopoietic Stem Cells / Q000276:immunology*; D006801:Humans; D007145:Immunoglobulin kappa-Chains / Q000235:genetics*; D008969:Molecular Sequence Data; D016511:Severe Combined Immunodeficiency / Q000276:immunology; D014158:Transcription, Genetic
chemical_list: D007145:Immunoglobulin kappa-Chains