| |  |
| |
| | IGK
V-GENE: Green box: Functional; Yellow box: Open reading frame; Red: Pseudogene.
J-GENE: Grey: Functional .
C-GENE: Blue: Functional.
for complete Figure, see: locus IGK, IMGT (The International ImMunoGeneTics information system ®) © Copyright 1995-2017 IMGT, IMGT is a CNRS trademark |
| |
| Description | The human IGK locus at 2p12 spans 1820 kb. It consists of 76 IGKV genes belonging to 7 subgroups, 5 IGKJ segments, and a unique IGKC gene The 76 IGKV genes are organized in two clusters separated by 800 kb. The IGKV distal cluster (the most 5' from IGKC and in the most centromeric position) spans 400 kb and comprises 36 genes. The IGKV proximal cluster (in 3' of the locus, closer to IGKC, and in the most telomeric position) spans 600 kb and comprises 40 genes. The potential genomic IGK repertoire comprises 31 to 35 functional IGKV genes belonging to 5 subgroups, the 5 IGKJ segments, and the unique IGKC gene. One rare IGKV haplotype has been described which contains only the proximal cluster. This haplotype comprises the 40 proximal IGKV genes belonging to 7 subgroups, of which 17 to 19 are functional and belong to 5 subgroups. Twenty-eight IGKV orphons have been identified and sequenced: 3 on the short arm of chromosome 2 but outside of the main IGK locus, 13 on the long arm of chromosome 2, 6 on chromosome 22, one on chromosome 1, one on chromosome 15, and 4 outside of chromosome 2 If both the proximal and distal IGKV clusters are present, the total number of human IGK genes per haploid genome is 82 (110 genes, if the orphons are included) of which 37-41 are functional. If only the proximal IGKV cluster is present, the total number of genes per haploid genome is 46 (74 genes, if the orphons are included) of which 23-25 genes are functional. List of the human IGK genes |
| Note | |
| | |
| Entity | Translocations which frequently result from errors of the recombinase enzyme complexe (RAG1, RAG2, etc.), which is responsable of the Immunoglobulin and T cell receptor V-J and V-D-J rearrangements. IGKV or IGKJ recombination signals or isolated heptamer are observed at the breakpoints |
| |  |
| |
| c-Immunoglobulin genes IgK at 2p12, in normal cells: PAC 1117G4 - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics. |
| |
| | |
| | |
| Entity | t(2;3;)(p12;q27); involve IGK - BCL6 in 3q27 |
| Disease | B-cell non-Hodgkin lymphomas (NHL), mainly diffuse large cell lymphoma; adult aggressive lymphoma |
| Prognosis | controversial |
| | |
| | |
| Entity | t(2;8)(p12;q24); involve IGK - C-MYC in 8q24 |
| Disease | B-cell acute lymphoblastic leukemia (ALL3) and non-Hodgkin lymphomas (NHL), especially in the Burkitt lymphoma |
| Prognosis | the prognosis has evolved with new treatments |
| | |
| The human immunoglobulin kappa variable (IGKV) genes and joining (IGKJ) segments. |
| Barbié V, Lefranc MP |
| Experimental and clinical immunogenetics. 1998 ; 15 (3) : 171-183. |
| PMID 9813414 |
| |
| Duration of effect of botulinum toxin type A in adult patients with cervical dystonia: a retrospective chart review. |
| Brashear A, Watts MW, Marchetti A, Magar R, Lau H, Wang L |
| Clinical therapeutics. 2000 ; 22 (12) : 1516-1524. |
| PMID 11192142 |
| |
| A directory of human germ-line V kappa segments reveals a strong bias in their usage. |
| Cox JP, Tomlinson IM, Winter G |
| European journal of immunology. 1994 ; 24 (4) : 827-836. |
| PMID 8149953 |
| |
| Cloned human and mouse kappa immunoglobulin constant and J region genes conserve homology in functional segments. |
| Hieter PA, Max EE, Seidman JG, Maizel JV Jr, Leder P |
| Cell. 1980 ; 22 (1 Pt 1) : 197-207. |
| PMID 6775818 |
| |
| The V kappa genes of the L regions and the repertoire of V kappa gene sequences in the human germ line. |
| Huber C, Schäble KF, Huber E, Klein R, Meindl A, Thiebe R, Lamm R, Zachau HG |
| European journal of immunology. 1993 ; 23 (11) : 2868-2875. |
| PMID 8223863 |
| |
| Nomenclature of the human immunoglobulin kappa (IGK) genes. |
| Lefranc MP |
| Experimental and clinical immunogenetics. 2001 ; 18 (3) : 161-174. |
| PMID 11549845 |
| |
| The Immunoglobulin FactsBook (Review) |
| Lefranc MP and Lefranc G |
| Academic Press, London, UK (458 pages), 2001. ISBN: 012441351X |
| |
| Localization of human immunoglobulin kappa light chain variable region genes to the short arm of chromosome 2 by in situ hybridization. |
| Malcolm S, Barton P, Murphy C, Ferguson-Smith MA, Bentley DL, Rabbitts TH |
| Proceedings of the National Academy of Sciences of the United States of America. 1982 ; 79 (16) : 4957-4961. |
| PMID 6812058 |
| |
| Protein displays of the human immunoglobulin heavy, kappa and lambda variable and joining regions. |
| Scaviner D, Barbié V, Ruiz M, Lefranc MP |
| Experimental and clinical immunogenetics. 1999 ; 16 (4) : 234-240. |
| PMID 10575277 |
| |
| The human immunoglobulin kappa locus: pseudogenes, unique and repetitive sequences. |
| Schäble K, Thiebe R, Flügel A, Meindl A, Zachau HG |
| Biological chemistry Hoppe-Seyler. 1994 ; 375 (3) : 189-199. |
| PMID 8011175 |
| |
| The immunoglobulin kappa locus-or-what has been learned from looking closely at one-tenth of a percent of the human genome. |
| Zachau HG |
| Gene. 1993 ; 135 (1-2) : 167-173. |
| PMID 8276255 |
| |
