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Citing this page: Lefranc, M.-P., Exp. Clin. Immunogenet., 18, 100-116 (2001) PMID: 11340299. pdf Lefranc, M.-P. and Lefranc, G., The Immunoglobulin FactsBook, Academic Press, London, 458 pages (2001). pdf

Human (Homo sapiens) IGH locus on chromosome 14 (14q32.33)

The orientation of the human (Homo sapiens) IGH locus on the chromosome 14 (14q32.33) is reverse (REV).

Locus representation human IGH

Legend:
Colors are according to IMGT color menu for genes.
The boxes representing the genes are not to scale. Exons are not shown.

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

Locus representation with only the functional genes: Human (Homo sapiens) IGH

Locus representation human IGH

* When needed, indicate the presence of allele(s) with another functionality: see above Human (Homo sapiens) IGH locus

Zoom for IGHD and IGHJ genes

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More information:
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] Hot spot of recombination : keyeux G. et al.(1989b) A specifie switch alpha probe of the human immunoglobulin IGHA locus. Nucleic Acids Res 17: 362. . PMID: 2566981
  3. [32] Homozygous deletion of IGHE : Wiebe, V. et al. (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).