Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

IGL (Immunoglobulin Lambda)

Identity

Other namesIGL@ (Immunoglobulin Lambda)
HGNC (Hugo) IGL
LocusID (NCBI) 3535
Location 22q11.22
Location_base_pair Starts at 22712136 and ends at 23248832 bp from pter ( according to hg19-Feb_2009)
 
  for complete Figure, see: chromosome 22, IMGT (The International ImMunoGeneTics information system ®) © Copyright 1995-2003 IMGT, IMGT is a CNRS trademark
Note The human IGL locus is located on chromosome 22 on the long arm, at band 22q11.2 The orientation of the locus has been determined by the analysis of translocations, involving the IGL locus, in leukemia and lymphoma. Sequencing of the long arm of chromosome 22 showed that it encompasses about 35 megabases of DNA and that the IGL locus is localized at 6 megabases from the centromere. Although the correlation between DNA sequences and chromosomal bands has not yet been made, the localization of the IGL locus can be refined to 22q11.2

DNA/RNA

 
  IGL
V-GENE: Green box: Functional; Yellow box: Open reading frame; Red: Pseudogene.
J-GENE: Grey: Functional .
C-GENE: Blue: Functional; Blue open box: Pseudogene; Blue triangle: Not sequenced.
GENES NOT RELATED: Purple open box: Pseudogene.
for complete Figure, see: locus IGL, IMGT (The International ImMunoGeneTics information system ®) © Copyright 1995-2003 IMGT, IMGT is a CNRS trademark
Description
  • The human IGL locus at 22q11.2 spans 1050 kb. It consists of 70 to 71 IGLV genes, localized on 900 kb, 7 to 11 IGLJ and 7 to 11 IGLC genes depending on the haplotypes, each IGLC gene being preceded by one IGLJ segment.
  • Fifty-six to 57 genes belong to 11 subgroups, whereas 14 pseudogenes which are too divergent to be assigned to subgroups, have been assigned to 3 clans.
  • The most 5' IGLV genes occupy the more centromeric position, whereas the IGLC genes, in 3' of the locus, are the most telomeric genes in the IGL locus.
  • The potential genomic IGL repertoire comprises 29 to 32 functional IGLV genes belonging to 10 subgroups, 4 to 5 IGLJ, and 4 to 5 IGLC functional genes in the 7-IGLC gene haplotype. One, 2, 3 or 4 additional IGLC genes, each one probably preceded by one IGLJ, have been shown to characterize IGLC haplotypes with 8, 9, 10 or 11 genes, but these genes have not yet been sequenced.
  • Two IGLV orphons have been identified on chromosome 8 at 8q11.2 and one of them belonging to subgroup 8 has been sequenced.
  • The recent sequencing of the chromosome 22q showed that the IGL locus is localized at 6 megabases from the centromere. Two IGLC orphons and two IGLV orphons have also been characterized on 22q outside of the major IGL locus (See also IMGT Repertoire)
  • The total number of human IGL genes per haploid genome is 84-93 (90-99 genes, if the orphons are included) of which 37-42 genes are functional
  • List of the human IGL genes
  • Protein

    Description
  • Proteins encoded by the IGL locus are the immunoglobulin lambda chains. They result from the recombination (or rearrangement), at the DNA level, of two genes: IGLV and IGLJ, with deletion of the intermediary DNA to create a rearranged IGLV-J gene. The rearranged IGLV-J gene is transcribed with one of the IGLC genes and translated into an immunoglobulin lambda chain.
  • Translation of the variable germline genes involved in the IGLV-J rearrangements are available at IMGT Repertoire Protein displays.
  • Compared to the germline genes, the rearranged variable genes will acquire somatic mutations during the B cell differentiation in the lymph nodes, which will considerably increase their diversity. These somatic mutations can be analysed using the IMGT/V-QUEST tool available at http://imgt.cines.fr
  • Mutations

    Note Mutations which correspond to allelic polymorphisms of the functional germline IGLV, IGLJ and IGLC genes are described in the IMGT database: (IMGT Repertoire>Alignments of alleles)

    Implicated in

    Entity Translocations which frequently result from errors of the recombinase enzyme complexe (RAG1, RAG2, etc.), responsable of the Immunoglobulin and T cell receptor V-J and V-D-J rearrangements. IGLV or IGLJ recombination signals or isolated heptamer are observed at the breakpoints.
     
    c-Immunoglobulin gene IgL at 22q11, in normal cells: PAC 1019H10 and PAC 869I1 - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.
      
    Entity t(3;22)(q27;q11); involve BCL6 in 3q27
    Disease B-cell non-Hodgkin lymphomas (NHL), mainly diffuse large cell lymphoma; adult aggressive lymphoma
    Prognosis controversial
      
    Entity t(8;22)(q24;q11); involve C-MYC in 8q24
    Disease B-cell acute lymphoblastic leukemia (ALL3) and non-Hodgkin lymphomas (NHL), especially in the Burkitt lymphoma (link)
    Prognosis the prognosis has evolved with new treatments
      

    Breakpoints

     

    Other Leukemias implicated (Data extracted from papers in the Atlas)

    Leukemias 11q23ChildAMLID1615 11q23ID1030 11q23secondLeukID1131 t1119ELLID1029 t0812q24q22ID2057
    t0814ID1050 8p11inMPDID1091 inv8p11q13ID1189

    External links

    Nomenclature
    HGNC (Hugo)IGL   5853
    Cards
    AtlasIgLID54
    Entrez_Gene (NCBI)IGL  3535  immunoglobulin lambda locus
    GeneCards (Weizmann)IGL
    Ensembl (Hinxton) [Gene_View]  chr22:22712136-23248832 [Contig_View]  IGL [Vega]
    cBioPortalIGL
    AceView (NCBI)IGL
    Genatlas (Paris)IGL
    WikiGenes3535
    SOURCE (Princeton)
    Genomic and cartography
    GoldenPath (UCSC)IGL  -  22q11.22   chr22:22712136-23248832 +  22q11.2   [Description]    (hg19-Feb_2009)
    EnsemblIGL - 22q11.2 [CytoView]
    Mapping of homologs : NCBIIGL [Mapview]
    Gene and transcription
    Genbank (Entrez)DQ892642 DQ895879 DQ896079
    RefSeq transcript (Entrez)
    RefSeq genomic (Entrez)AC_000154 NC_000022 NC_018933 NG_000002 NT_011520 NW_001838745 NW_004929430
    Consensus coding sequences : CCDS (NCBI)IGL
    Gene ExpressionIGL [ NCBI-GEO ]     IGL [ SEEK ]   IGL [ MEM ]
    Protein : pattern, domain, 3D structure
    Domain families : Pfam (Sanger)
    Domain families : Pfam (NCBI)
    DMDM Disease mutations3535
    Protein Interaction databases
    BioGRIDIGL
    IntegromeDBIGL
    STRING (EMBL)IGL
    Ontologies - Pathways
    Ontology : AmiGO
    Ontology : EGO-EBI
    Protein Interaction DatabaseIGL
    Wikipedia pathwaysIGL
    Gene fusion - rearrangments
    Polymorphisms : SNP, mutations, diseases
    SNP Single Nucleotide Polymorphism (NCBI)IGL
    snp3D : Map Gene to Disease3535
    SNP (GeneSNP Utah)IGL
    SNP : HGBaseIGL
    Genetic variants : HAPMAPIGL
    Exome VariantIGL
    1000_GenomesIGL 
    Mutations and Diseases : HGMDIGL
    Mutations and Diseases : intOGenIGL
    Genomic VariantsIGL  IGL [DGVbeta]
    dbVarIGL
    ClinVarIGL
    Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
    Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
    Diseases
    OMIM
    MedgenIGL
    GENETestsIGL
    Disease Genetic AssociationIGL
    Huge Navigator IGL [HugePedia]  IGL [HugeCancerGEM]
    General knowledge
    Homologs : HomoloGeneIGL
    Homology/Alignments : Family Browser (UCSC)IGL
    Phylogenetic Trees/Animal Genes : TreeFamIGL
    Chemical/Protein Interactions : CTD3535
    Chemical/Pharm GKB GenePA35415
    Clinical trialIGL
    Other databases
    Other databaseIGL@ - IMGT
    Probes
    ProbeProbes IMGT
    ProbeImmunoglobulin gene IgL at 22q11, in normal cells (Bari)
    Litterature
    PubMed35 Pubmed reference(s) in Entrez
    CoreMineIGL
    iHOPIGL
    OncoSearchIGL

    Bibliography

    Chromosomal orientation of the lambda light chain locus: V lambda is proximal to C lambda in 22q11.
    Emanuel BS, Cannizzaro LA, Magrath I, Tsujimoto Y, Nowell PC, Croce CM
    Nucleic acids research. 1985 ; 13 (2) : 381-387.
    PMID 3923432
     
    Organization of the human immunoglobulin lambda light-chain locus on chromosome 22q11.2.
    Frippiat JP, Williams SC, Tomlinson IM, Cook GP, Cherif D, Le Paslier D, Collins JE, Dunham I, Winter G, Lefranc MP
    Human molecular genetics. 1995 ; 4 (6) : 983-991.
    PMID 7655473
     
    The organization of the human immunoglobulin lambda gene locus.
    Kawasaki K, Minoshima S, Schooler K, Kudoh J, Asakawa S, de Jong PJ, Shimizu N
    Genome research. 1995 ; 5 (2) : 125-135.
    PMID 9132267
     
    One-megabase sequence analysis of the human immunoglobulin lambda gene locus.
    Kawasaki K, Minoshima S, Nakato E, Shibuya K, Shintani A, Schmeits JL, Wang J, Shimizu N
    Genome research. 1997 ; 7 (3) : 250-261.
    PMID 9074928
     
    Protein displays of the human immunoglobulin heavy, kappa and lambda variable and joining regions.
    Scaviner D, Barbiˆ© V, Ruiz M, Lefranc MP
    Experimental and clinical immunogenetics. 1999 ; 16 (4) : 234-240.
    PMID 10575277
     
    Human immunoglobulin C lambda 6 gene encodes the Kern+Oz-lambda chain and C lambda 4 and C lambda 5 are pseudogenes.
    Dariavach P, Lefranc G, Lefranc MP
    Proceedings of the National Academy of Sciences of the United States of America. 1987 ; 84 (24) : 9074-9078.
    PMID 3122211
     
    Structure and expression of the human immunoglobulin lambda genes.
    Vasicek TJ, Leder P
    The Journal of experimental medicine. 1990 ; 172 (2) : 609-620.
    PMID 2115572
     
    Polymorphism of immunoglobulin lambda constant region genes in populations from France, Lebanon and Tunisia.
    Ghanem N, Dariavach P, Bensmana M, Chibani J, Lefranc G, Lefranc MP
    Experimental and clinical immunogenetics. 1988 ; 5 (4) : 186-195.
    PMID 2908491
     
    Allelic polymorphisms and RFLP in the human immunoglobulin lambda light chain locus.
    Lefranc MP, Pallarˆ®s N, Frippiat JP
    Human genetics. 1999 ; 104 (5) : 361-369.
    PMID 10394926
     
    Allelic polymorphisms and RFLP in the human immunoglobulin lambda light chain locus.
    Lefranc MP, Pallarˆ®s N, Frippiat JP
    Human genetics. 1999 ; 104 (5) : 361-369.
    PMID 10394926
     
    Nomenclature of the human immunoglobulin genes (Review)
    Lefranc MP
    Current Protocols in Immunology. 2000.
     
    The Immunologist FactsBook (Review)
    Lefranc MP and Lefranc G
    Academic Press, London, UK (. 1945.
     
    Locus Map and Genomic repertoire of the Human Immunoglobulin Genes (Review)
    Lefranc MP
    The immunologist. 2000.
     
    Nomenclature of the human immunoglobulin lambda (IGL) genes.
    Lefranc MP
    Experimental and clinical immunogenetics. 2001 ; 18 (4) : 242-254.
    PMID 11872955
     
    REVIEW articlesautomatic search in PubMed
    Last year publicationsautomatic search in PubMed

    Search in all EBI   NCBI

    Contributor(s)

    Written07-2000Marie-Paule Lefranc
    Updated09-2003Marie-Paule Lefranc

    Citation

    This paper should be referenced as such :
    Lefranc, MP
    IGL (immunoglobulin lambda)
    Atlas Genet Cytogenet Oncol Haematol. 2003;7(4):241-244.
    Free online version   Free pdf version   [Bibliographic record ]
    History of this paper:
    Lefranc, MP. IGL (immunoglobulin lambda). Atlas Genet Cytogenet Oncol Haematol. 2003;7(4):241-244.
    http://documents.irevues.inist.fr/bitstream/2042/38015/1/09-2003-IgLID54.pdf
    URL : http://AtlasGeneticsOncology.org/Genes/IgLID54.html

    © Atlas of Genetics and Cytogenetics in Oncology and Haematology
    indexed on : Tue Aug 26 15:27:25 CEST 2014

    Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

    For comments and suggestions or contributions, please contact us

    jlhuret@AtlasGeneticsOncology.org.