IGL (Immunoglobulin Lambda)

2000-07-01   Marie-Paule Lefranc  

IMGT, LIGM, IGH, UPR CNRS 1142, 141 rue de la Cardonille, 34396 Montpellier Cedex 5, France

Identity

HGNC
IGL
LOCATION
22q11.22
IMAGE
Atlas Image
LEGEND
for complete Figure, see: chromosome 22, IMGT (The International ImMunoGeneTics information system ®) © Copyright 1995-2017 IMGT, IMGT is a CNRS trademark
LOCUSID
3535
ALIAS
IGL@,IGLC6

DNA/RNA

Atlas Image
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 1995-2017 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

    • 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 name
    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.
    Atlas Image
    c-Immunoglobulin gene IgL at 22q11, in normal cells: PAC 1019H10 and PAC 869I1 - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.
    Entity name
    t(3;22)(q27;q11); involve IGL - BCL6 in 3q27
    Disease
    B-cell non-Hodgkin lymphomas (NHL), mainly diffuse large cell lymphoma; adult aggressive lymphoma
    Prognosis
    controversial
    Entity name
    t(8;22)(q24;q11); involve IGL - 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

    Breakpoints

    Atlas Image

    Article Bibliography

    Pubmed IDLast YearTitleAuthors
    31222111987Human immunoglobulin C lambda 6 gene encodes the Kern+Oz-lambda chain and C lambda 4 and C lambda 5 are pseudogenes.Dariavach P et al
    39234321985Chromosomal orientation of the lambda light chain locus: V lambda is proximal to C lambda in 22q11.Emanuel BS et al
    76554731995Organization of the human immunoglobulin lambda light-chain locus on chromosome 22q11.2.Frippiat JP et al
    29084911988Polymorphism of immunoglobulin lambda constant region genes in populations from France, Lebanon and Tunisia.Ghanem N et al
    90749281997One-megabase sequence analysis of the human immunoglobulin lambda gene locus.Kawasaki K et al
    118729552001Nomenclature of the human immunoglobulin lambda (IGL) genes.Lefranc MP et al
    103949261999Allelic polymorphisms and RFLP in the human immunoglobulin lambda light chain locus.Lefranc MP et al
    105752771999Protein displays of the human immunoglobulin heavy, kappa and lambda variable and joining regions.Scaviner D et al
    21155721990Structure and expression of the human immunoglobulin lambda genes.Vasicek TJ et al

    Other Information

    Locus ID:

    NCBI: 3535
    HGNC: 5853

    Variants:

    dbSNP: 3535
    ClinVar: 3535
    COSMIC: IGL

    References

    Pubmed IDYearTitleCitations
    245987402014Role of κ→λ light-chain constant-domain switch in the structure and functionality of A17 reactibody.10
    246982912014Serum immunoglobulin free light chain levels are higher in girls than boys during eosinophilic oesophagitis.4
    251382182014Formation of amyloid fibers by monomeric light chain variable domains.23
    245987402014Role of κ→λ light-chain constant-domain switch in the structure and functionality of A17 reactibody.10
    246982912014Serum immunoglobulin free light chain levels are higher in girls than boys during eosinophilic oesophagitis.4
    251382182014Formation of amyloid fibers by monomeric light chain variable domains.23
    233036722013High-affinity IgG antibodies develop naturally in Ig-knockout rats carrying germline human IgH/Igκ/Igλ loci bearing the rat CH region.43
    233765562013Free light chain monomer-dimer patterns in the diagnosis of multiple sclerosis.11
    236088802013The origin of deletion 22q11 in chronic lymphocytic leukemia is related to the rearrangement of immunoglobulin lambda light chain locus.10
    241072282013Mutational and genetic determinants of λ6 light chain amyloidogenesis.12
    233036722013High-affinity IgG antibodies develop naturally in Ig-knockout rats carrying germline human IgH/Igκ/Igλ loci bearing the rat CH region.43
    233765562013Free light chain monomer-dimer patterns in the diagnosis of multiple sclerosis.11
    236088802013The origin of deletion 22q11 in chronic lymphocytic leukemia is related to the rearrangement of immunoglobulin lambda light chain locus.10
    241072282013Mutational and genetic determinants of λ6 light chain amyloidogenesis.12
    225038792012Combined analysis using extended renal reference range of serum free light chain ratio and serum protein electrophoresis improves the diagnostic accuracy of multiple myeloma in renal insufficiency.2

    Citation

    Marie-Paule Lefranc

    IGL (Immunoglobulin Lambda)

    Atlas Genet Cytogenet Oncol Haematol. 2000-07-01

    Online version: http://atlasgeneticsoncology.org/gene/54/igl-(immunoglobulin-lambda)