Immunoglobulin lambda-like polypeptide 1 is a protein that in humans is encoded by the IGLL1gene.[5][6][7] IGLL1 has also recently been designated CD179B (cluster of differentiation 179B).
Mutations in this gene can result in B cell deficiency and agammaglobulinemia-2, an autosomal recessive disease in which few or no gamma globulins or antibodies are made. Two transcript variants encoding different isoforms have been found for this gene.
Function
Two copies of IGLL1+VPREB1 (CD179B+CD179A) forms a pre-B cell receptor (pre-BCR) with the membrane-bound IgM (μ) heavy chain and the signaling molecules Igα and Igβ (CD79). Compared to the true BCR, IGLL1 and VPREB1 together take the place of the light chain, hence the name "surrogate light chain".[7] In the surrogate light chain, IGLL1 takes the role of the C (constant) region while VPREB takes the role of the V ("variable") region.[8]
The pre-BCR is found on the surface of proB and preB cells, where it is involved in transduction of signals for cellular proliferation, differentiation from the proB cell to the preB cell stage, allelic exclusion at the Ig heavy chain gene locus, and promotion of Ig light chain gene rearrangements.[7]
IGLL1 is a mammalian-specific duplication of a immunoglobulin light chain lambda.[9] It is a member of the immunoglobulin gene superfamily. This gene does not undergo rearrangement.[7]
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Bauer SR, Huebner K, Budarf M, Finan J, Erikson J, Emanuel BS, et al. (November 1988). "The human Vpre B gene is located on chromosome 22 near a cluster of V lambda gene segments". Immunogenetics. 28 (5): 328–333. doi:10.1007/BF00364231. PMID3139558. S2CID6981867.
^Schiff C, Milili M, Fougereau M (December 1989). "Isolation of early immunoglobulin lambda-like gene transcripts in human fetal liver". European Journal of Immunology. 19 (10): 1873–1878. doi:10.1002/eji.1830191018. PMID2511029. S2CID84544002.
Bossy D, Milili M, Zucman J, Thomas G, Fougereau M, Schiff C (November 1991). "Organization and expression of the lambda-like genes that contribute to the mu-psi light chain complex in human pre-B cells". International Immunology. 3 (11): 1081–1090. doi:10.1093/intimm/3.11.1081. PMID1760403.
Mattei MG, Fumoux F, Roeckel N, Fougereau M, Schiff C (March 1991). "The human pre-B-specific lambda-like cluster is located in the 22q11.2-22q12.3 region, distal to the IgC lambda locus". Genomics. 9 (3): 544–546. doi:10.1016/0888-7543(91)90422-B. PMID1903358.
Schiff C, Bensmana M, Guglielmi P, Milili M, Lefranc MP, Fougereau M (1990). "The immunoglobulin lambda-like gene cluster (14.1, 16.1 and F lambda 1) contains gene(s) selectively expressed in pre-B cells and is the human counterpart of the mouse lambda 5 gene". International Immunology. 2 (3): 201–207. doi:10.1093/intimm/2.3.201. PMID2128466.
Corper AL, Sohi MK, Bonagura VR, Steinitz M, Jefferis R, Feinstein A, et al. (May 1997). "Structure of human IgM rheumatoid factor Fab bound to its autoantigen IgG Fc reveals a novel topology of antibody-antigen interaction". Nature Structural Biology. 4 (5): 374–381. doi:10.1038/nsb0597-374. PMID9145108. S2CID34331252.
Nomura K, Kanegane H, Karasuyama H, Tsukada S, Agematsu K, Murakami G, et al. (July 2000). "Genetic defect in human X-linked agammaglobulinemia impedes a maturational evolution of pro-B cells into a later stage of pre-B cells in the B-cell differentiation pathway". Blood. 96 (2): 610–617. PMID10887125.
