IMGT Repertoire (IG and TR)


Locus representation: human (Homo sapiens) IGH locus assembly HG01243.alt.pat.f1_v2 (Puerto rican)

Citing this page: IMGT/LIGM-DB: IMGT000173 (600126 bp), and IMGT000174 (124746 bp), Human (Homo sapiens) IGH locus.

HG01243.alt.pat.f1_v2 corresponds to the paternal assembly of the individual HG01243. Information about the maternal assembly can be found: Locus representation: Human (Homo sapiens) assembly Human HG01243.pri.mat.f1_v2 IGH (Puerto rican)

Human (Homo sapiens) IGH locus assembly HG01243.alt.pat.f1_v2 (Puerto rican)

Locus representation human (<em>Homo sapiens</em>) IGH locus assembly HG01243.alt.pat.f1_v2 (<em>Puerto rican</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.

  • IGH locus of assembly HG01243.alt.pat.f1_v2 is detected in two different scaffolds: in scaffold JAHEOY010000121.1 (IMGT000173) from IGHV7-81 to IGHA1*01 and in scaffold JAHEOY010000024.1 (IMGT000174) (IGHGP to IGHA2).

    • 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
    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:
    21/06/2024
    Last updated:
    11/07/2024
    Authors:
    Maria Georga, Ariadni Papadaki, Joumana Jabado-Michaloud, Géraldine Folch, Véronique Giudicelli and Sofia Kossida