IGL@
| IGL | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | IGL, IGL@, IGLC6, immunoglobulin lambda locus | |||||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | GeneCards: IGL | |||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Immunoglobulin lambda locus, also known as IGL@, is a region on the q arm of human chromosome 22, region 11.22 (22q11.22) that contains genes for the lambda light chains of antibodies (or immunoglobulins).[2]
Immunoglobulins recognize foreign antigens and initiate immune responses such as phagocytosis and the complement system. Each immunoglobulin molecule consists of two identical heavy chains and two identical light chains. There are two classes of light chains, kappa and lambda. This region represents the germline organization of the lambda light chain locus. The locus includes V (variable), J (joining), and C (constant) segments.[2]
Structure
[edit]The lambda locus consists of two separate gene clusters.[3]
The constant genes and joining gene-segments are found in the IGLC region, arranged in head-to-tail cassettes that each contain a single J and C "gene". There is a recombination signal sequence (RSS) before the J gene. In the reference human genome there are seven such casettes, four of which are functional. Some people have fewer or extra copies that may or may not be functional.[3]
The variable segments are found in the IGLV regiona - a gene cluster interrupted by a number of non-IGLV genes. Each gene consits of an LP1 (leader part 1, first half of a signal peptide) exon, an intron, a V exon (which translates to LP2 - the other part of the signal peptide - and the antigen-binding variable region), and an RSS.[3]
Function
[edit]During B cell development, a VJ recombination event at the DNA level joins a single V segment with a J segment at the RSS. After RNA splicing (incl. intron removal) the end product is a V-J-C mRNA. Recombination of many different V segments with several J segments provides a wide range of antigen recognition.[2] There is no diversity in J/C combination, because the C gene used can only ever be the one that follows the selected J gene.[3]
Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase, and by somatic hypermutation, which occurs during B cell maturation in the spleen and lymph nodes. Several V segments and three C segments are known to be incapable of encoding a protein and are considered pseudogenes. The locus also includes several non-immunoglobulin genes, many of which are pseudogenes or are predicted by automated computational analysis or homology to other species.[2]
Genes
[edit]The immunoglobulin lambda locus contains the following genes:
- IGLC@ – constant group
- IGLC1 – immunoglobulin lambda constant 1 (Mcg marker)
- IGLC2 – immunoglobulin lambda constant 2 (Kern-Oz- marker)[2]
- IGLC3 – immunoglobulin lambda constant 3 (Kern-Oz+ marker)
- IGLC7 – immunoglobulin lambda constant 7
- IGLJ@ – joining group
- IGLJn – immunoglobulin lambda joining n
- IGLJ1, IGLJ2, IGLJ3, IGLJ6, IGLJ7
- IGLV@ – variable group
- IGLVm-n – immunoglobulin lambda variable n-m
- IGLV1-36, IGLV1-40, IGLV1-44, IGLV1-47, IGLV1-51, IGLV1-62
- IGLV2-5, IGLV2-8, IGLV2-11, IGLV2-14, IGLV2-18, IGLV2-23
- IGLV3-1, IGLV3-10, IGLV3-12, IGLV3-16, IGLV3-19, IGLV3-21, IGLV3-25, IGLV3-27
- IGLV4-3, IGLV4-60, IGLV4-69
- IGLV5-37, IGLV5-39, IGLV5-45, IGLV5-52
- IGLV6-57
- IGLV7-43
- IGLV9-49
- IGLV10-54
References
[edit]- ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- 1 2 3 4 5 "Entrez Gene: IGL@ immunoglobulin lambda locus".
- 1 2 3 4 Gibson WS, Rodriguez OL, Shields K, Silver CA, Dorgham A, Emery M, et al. (February 2023). "Characterization of the immunoglobulin lambda chain locus from diverse populations reveals extensive genetic variation". Genes and Immunity. 24 (1): 21–31. doi:10.1038/s41435-022-00188-2. PMC 10041605. PMID 36539592.
Further reading
[edit]- Taussig MJ (1988). "Molecular genetics of immunoglobulins". Immunology. Supplement. 1: 7–15. PMID 3133312.
- Combriato G, Klobeck HG (1991). "V lambda and J lambda-C lambda gene segments of the human immunoglobulin lambda light chain locus are separated by 14 kb and rearrange by a deletion mechanism". European Journal of Immunology. 21 (6): 1513–1522. doi:10.1002/eji.1830210627. PMID 1904362. S2CID 84668650.
- Vasicek TJ, Leder P (1990). "Structure and expression of the human immunoglobulin lambda genes". The Journal of Experimental Medicine. 172 (2): 609–620. doi:10.1084/jem.172.2.609. PMC 2188323. PMID 2115572.
- Emanuel BS, Cannizzaro LA, Magrath I, Tsujimoto Y, Nowell PC, Croce CM (January 1985). "Chromosomal orientation of the lambda light chain locus: V lambda is proximal to C lambda in 22q11". Nucleic Acids Research. 13 (2): 381–387. doi:10.1093/nar/13.2.381. PMC 341002. PMID 3923432.
- Hieter PA, Korsmeyer SJ, Waldmann TA, Leder P (1981). "Human immunoglobulin kappa light-chain genes are deleted or rearranged in lambda-producing B cells". Nature. 290 (5805): 368–372. Bibcode:1981Natur.290..368H. doi:10.1038/290368a0. PMID 6783958. S2CID 4333721.
- Erikson J, Martinis J, Croce CM (1982). "Assignment of the genes for human lambda immunoglobulin chains to chromosome 22". Nature. 294 (5837): 173–175. doi:10.1038/294173a0. PMID 6795508. S2CID 22056008.
- McBride OW, Hieter PA, Hollis GF, Swan D, Otey MC, Leder P (May 1982). "Chromosomal location of human kappa and lambda immunoglobulin light chain constant region genes". The Journal of Experimental Medicine. 155 (5): 1480–1490. doi:10.1084/jem.155.5.1480. PMC 2186665. PMID 6802926.
- Frippiat JP, Williams SC, Tomlinson IM, Cook GP, Cherif D, Le Paslier D, et al. (June 1995). "Organization of the human immunoglobulin lambda light-chain locus on chromosome 22q11.2". Human Molecular Genetics. 4 (6): 983–991. doi:10.1093/hmg/4.6.983. PMID 7655473.
- Williams SC, Frippiat JP, Tomlinson IM, Ignatovich O, Lefranc MP, Winter G (November 1996). "Sequence and evolution of the human germline V lambda repertoire". Journal of Molecular Biology. 264 (2): 220–232. doi:10.1006/jmbi.1996.0636. PMID 8951372.
- Kawasaki K, Minoshima S, Nakato E, Shibuya K, Shintani A, Schmeits JL, et al. (March 1997). "One-megabase sequence analysis of the human immunoglobulin lambda gene locus". Genome Research. 7 (3): 250–261. doi:10.1101/gr.7.3.250. PMID 9074928.
- Lefranc MP (2001). "Nomenclature of the human immunoglobulin lambda (IGL) genes". Experimental and Clinical Immunogenetics. 18 (4): 242–254. doi:10.1159/000049203. PMID 11872955. S2CID 27255400.
- Boursier L, Su W, Spencer J (2003). "Imprint of somatic hypermutation differs in human immunoglobulin heavy and lambda chain variable gene segments". Molecular Immunology. 39 (16): 1025–1034. doi:10.1016/S0161-5890(03)00033-6. PMID 12749909.
- Makino DL, Henschen-Edman AH, McPherson A (2006). "Four crystal forms of a Bence-Jones protein". Acta Crystallographica. Section F, Structural Biology and Crystallization Communications. 61 (Pt 1): 79–82. doi:10.1107/S1744309104028532. PMC 1952397. PMID 16508097.
- Richl P, Stern U, Lipsky PE, Girschick HJ (2007). "The lambda gene immunoglobulin repertoire of human neonatal B cells". Molecular Immunology. 45 (2): 320–327. doi:10.1016/j.molimm.2007.06.155. PMID 17675156.
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