IMGT Repertoire (IG and TR)


Locus representation: human (Homo sapiens) IGH locus assembly NA19240.pri.mat.f1_v2 (African Yoruba)

Citing this page: IMGT/LIGM-DB: IMGT000158 (1157851 bp), Human (Homo sapiens) IGH locus.

NA19240.pri.mat.f1_v2 corresponds to the maternal assembly of the individual NA19240. Information about the paternal assembly can be found: Locus representation: Human (Homo sapiens) assembly NA19240.alt.pat.f1_v2 IGH (African Yoruba)

Human (Homo sapiens) IGH locus assembly NA19240.pri.mat.f1_v2 (African Yoruba)

Locus representation human (<em>Homo sapiens</em>) IGH locus assembly NA19240.pri.mat.f1_v2 (<em>African Yoruba</em>)

Legend:
Colors are according to IMGT color menu for genes.
The boxes representing the genes are not to scale. Exons are not shown.
A double slash // indicates a gap in genome assembly. Distances in bp (base pair) or in kb (kilobase) associated with a double slash are taken into account in the length of the lines and included in the numbers displayed at the right end of the lines.

In the 185 kb region, between the IGHEP1 and IGHG4 genes, genes were identified similar to: IGHA1-IGHGP-IGHG2-IGHE-IGHA1-IGHGP-IGHG2, which were not annotated since they do not respect the expected gene order and do not match the already annotated alleles.
SWITCH sequences are represented by a filled circle upstream of the IGHC genes.
IGHV genes which correspond to insertion/deletion polymorphisms but are not yet precisely located are not shown.

The Human (Homo sapiens) IGHV genes belong to 7 subgroups (Gene tables: Human IGHV) which are part of three clans (Figure IGHV clans). One additional clan only contains one pseudogene. Clans comprise, respectively:

  • clan I: IGHV1, IGHV5 and IGHV7 subgroup genes
  • clan II: IGHV2, IGHV4 and IGHV6 subgroup genes and 22 pseudogenes IGHV(II)
  • clan III: IGHV3 subgroup genes and 18 pseudogenes IGHV(III)
  • clan IV: Pseudogene IGHV(IV)-44-1

Zoom for (African Yoruba)D and (African Yoruba)J genes

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IMGT references:
  1. [1] Lefranc, M.-P. and Lefranc, G., The immunoglobulin FactsBook, Academic Press, London, 458 pages (2001) ISBN:012441351X.
  2. [2] Lefranc, M.-P., Nomenclature of the human immunoglobulin genes, Current Protocols in Immunology, A.1P.1-A.1P.37 (2000). PMID:18432649
IGHV genes
  1. [3] Lefranc, M.-P. and Lefranc, G., The immunoglobulin FactsBook, Academic Press, London, 458 pages (2001) ISBN:012441351X.
  2. [4] Lefranc, M.-P., Nomenclature of the human immunoglobulin genes, Currents Protocols in Immunology, A.1P.1-A.1P.37 (2000). PMID:18432649
  3. [5] Shin, E.K. et al., EMBO J., 10, 3641-3645 (1991).
  4. [6] Matsuda, F. et al., Nature Genetics 3, 88-94 (1993).
  5. [7] Cook, G.P. et al., Nature Genetics, 7, 162-168 (1994).
  6. [8] Cook, G.P. and Tomlinson, I.M., Immunology to-day, 16, 237-242 (1995).
  7. [9] Matsuda, F. et al., Exp. Med., 188, 2151-2162 (1998).
  8. [10] Matsuda, F. and Honjo, T., The Immunologist, 7, 171-176 (1999).
IGHJ genes
  1. [11] Ravetch, J.V. et al., Cell, 27, 583-591 (1981).
IGHD genes
  1. [12] Siebenlist, U. et al., Nature, 294, 631-635 (1981).
  2. [13] Buluwela, L. et al., EMBO J., 7, 2003-2010 (1988).
  3. [14] Ichihara, Y. et al., EMBO J., 7, 4141-4150 (1988).
  4. [15] Corbett, S.J. et al., J. Mol. Biol., 270, 587-597 (1997).
Order of the IGHC genes
  1. [16] Flanagan, J.G. and Rabbitts,T.H., Nature, 300, 709-713 (1982).
  2. [17] Lefranc, M.-P. et al., Nature, 300, 760-762 (1982). PMID:6817143
  3. [18] Lefranc, M.-P. et al., Mol. Biol. Med., 1, 207-217 (1983). PMID:6438434
IGHC genes
  1. [19] M: Rabbitts, T.H. et al., Nucl. Acids Res., 9, 4509-4524 (1981).
  2. [20] D: White, M.B. et al., Science, 228, 733-737 (1985).
  3. [21] G3: Huck, S. et al., Nucl. Acids Res., 14, 1779-1789 (1986) PMID : 3081877; Huck, S. et al., Immunogenetics, 30, 250-257 (1989) PMID : 2571587.
  4. [22] G1: Ellison, J.W. et al., Nucl. Acids Res., 10, 4071-4079 (1982).
  5. [23] EP1: Max, E.E. et al., Cell, 29, 691-699 (1982).
  6. [24] A1: Flanagan, J.G. et al., Cell, 36, 681-688 (1984). PMID:6421489
  7. [25] GP: Bensmana, M. et al., Nucl. Acids Res., 16, 3108 (1988). PMID:3130612
  8. [26] G2: Ellison, J.W. and Hood, L.E. Proc. Natl. Acad. Sc. USA, 79, 1984-1988 (1982).
  9. [27] G4: Ellison, J.W. et al., DNA, 1, 11-18 (1981).
  10. [28] E: Flanagan, J.G. and Rabbitts, T.H., EMBO J., 1, 655-660 (1982) ; Max et al., Cell 29, 691-699 (1982).
  11. [29] A2: Flanagan, J.G. et al., Cell, 36, 681-688 (1984) PMID : 6421489; Bensmana, M. et al., Cytogenet. Cell Genet., 56, 128 (1991) PMID: 1901541.
Allelic multigene deletions
  1. [30] First CNV description for IGHC : Lefranc M-P. et al. (1982). Nature 300:760-762 PMID: 6817143 . Lefranc G. et al. (1983).Eur J Immunol 13:240-244. PMID: 6832214. Lefranc M-P. et al. (1983). Mol Biol Med 1:207-217. PMID: 6438434..
  2. [31] Keyeux G, Lefranc G, Lefranc M-P. A multigene deletion in the human IGH constant region locus involves highly homologous hot spots of recombination. Genomics 5(3):431-441 (1989).. PMID:2613231
  3. [32] Wiebe V., A Helal A.,Lefranc M-P, Lefranc G. Molecular analysis of the T17 immunoglobulin CH multigene deletion (del A1-GP-G2-G4-E) (1994). Human Genetics, 93, 520-528.. PMID:8168828
  4. [33] Different types of IGHC multigene deletion :
    deletion I del G1-EP1-A1-GP-G2-G4,
    deletion II del EP1-A1-GP,
    deletion III del A1-GP-G2-G4-E,
    deletion IV del EP1-A1-GP-G2-G4,
    deletion V del GP-G2-G4-E-A2,
    deletion VI del G1-EP1-A1-GP-G2..
  5. [34] IGHC multigene deletions in healthy individuals..
Available cell lines with IGHC multigene deletions
  1. [35] Click here.
Allelic multigene duplications
  1. [36] Bottaro, A. et al., Immunogenetics, 37, 356-363 (1993).
Distance between the IGHC genes
  1. [37] Flanagan, J.G. and Rabbitts, T.H., Nature, 300,709-713 (1982).
Localization of IGHGP between IGHA1 and IGHG2
  1. [38] Lefranc, M.-P. et al., Mol. Biol. Med., 1, 207-217 (1983). PMID:6438434
JH-Cmu enhancer
  1. [39] Hayday, A.C. et al., Nature, 307, 334-340 (1984). PMID:6420706
3' enhancers
  1. [40] Mills, F.C. et al., J. Exp. Med., 186, 845-858 (1997).
Created:
10/06/2024
Last updated:
11/07/2024
Authors:
Maria Georga, Ariadni Papadaki, Joumana Jabado-Michaloud, Géraldine Folch, Véronique Giudicelli and Sofia Kossida