Human (Homo sapiens) IGK locus assembly NA19240.pri.mat.f1_v2 (African Yoruba)
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.
The IGKV genes of the proximal V-CLUSTER
are designated by a number for the subgroup, followed by a hyphen and a number for the localization from 3' to 5' in the locus.
The IGKV genes of the distal duplicated V-CLUSTER are designated by the same numbers as the corresponding
genes in the proximal V-CLUSTER, with the letter D added.
Arrows show the IGKV genes whose orientation is opposite to that of the
J-C-CLUSTER.
Note: Gene IGKV4-1 was found in an inverted orientation of transcription. Due to insufficient data from the raw assembly, annotation of this gene, including allele assignment and functionality, was not performed. However, the functionality of the 01 allele was retained and used for representation purposes in the map.
The Human (Homo sapiens) IGKV genes
belong to seven subgroups (Gene table: Human IGKV) which are part of three clans
(Figure IGKV clans).
Clans comprise, respectively:
- clan I: IGKV1 subgroup genes
- clan II: IGKV2, IGKV3, IGKV4 and IGKV6 subgroup genes
- clan III: IGKV5 and IGKV7 subgroup genes
IMGT references:
- [1] Lefranc, M.-P. and Lefranc, G., The immunoglobulin FactsBook, Academic Press, London, 458 pages (2001) ISBN:012441351X.
- [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
- [3] Lefranc, M.-P. and Lefranc, G., The immunoglobulin FactsBook, Academic Press, London, 458 pages (2001) ISBN:012441351X.
- [4] Lefranc, M.-P., Nomenclature of the human immunoglobulin genes, Currents Protocols in Immunology, A.1P.1-A.1P.37 (2000). PMID:18432649
- [5] Shin, E.K. et al., EMBO J., 10, 3641-3645 (1991).
- [6] Matsuda, F. et al., Nature Genetics 3, 88-94 (1993).
- [7] Cook, G.P. et al., Nature Genetics, 7, 162-168 (1994).
- [8] Cook, G.P. and Tomlinson, I.M., Immunology to-day, 16, 237-242 (1995).
- [9] Matsuda, F. et al., Exp. Med., 188, 2151-2162 (1998).
- [10] Matsuda, F. and Honjo, T., The Immunologist, 7, 171-176 (1999).
IGHJ genes
- [11] Ravetch, J.V. et al., Cell, 27, 583-591 (1981).
IGHD genes
- [12] Siebenlist, U. et al., Nature, 294, 631-635 (1981).
- [13] Buluwela, L. et al., EMBO J., 7, 2003-2010 (1988).
- [14] Ichihara, Y. et al., EMBO J., 7, 4141-4150 (1988).
- [15] Corbett, S.J. et al., J. Mol. Biol., 270, 587-597 (1997).
Order of the IGHC genes
- [16] Flanagan, J.G. and Rabbitts,T.H., Nature, 300, 709-713 (1982).
- [17] Lefranc, M.-P. et al., Nature, 300, 760-762 (1982). PMID:6817143
- [18] Lefranc, M.-P. et al., Mol. Biol. Med., 1, 207-217 (1983). PMID:6438434
IGHC genes
- [19] M: Rabbitts, T.H. et al., Nucl. Acids Res., 9, 4509-4524 (1981).
- [20] D: White, M.B. et al., Science, 228, 733-737 (1985).
- [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.
- [22] G1: Ellison, J.W. et al., Nucl. Acids Res., 10, 4071-4079 (1982).
- [23] EP1: Max, E.E. et al., Cell, 29, 691-699 (1982).
- [24] A1: Flanagan, J.G. et al., Cell, 36, 681-688 (1984). PMID:6421489
- [25] GP: Bensmana, M. et al., Nucl. Acids Res., 16, 3108 (1988). PMID:3130612
- [26] G2: Ellison, J.W. and Hood, L.E. Proc. Natl. Acad. Sc. USA, 79, 1984-1988 (1982).
- [27] G4: Ellison, J.W. et al., DNA, 1, 11-18 (1981).
- [28] E: Flanagan, J.G. and Rabbitts, T.H., EMBO J., 1, 655-660 (1982) ; Max et al., Cell 29, 691-699 (1982).
- [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
- [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..
- [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
- [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
- [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..
- [34] IGHC multigene deletions in healthy individuals..
Available cell lines with IGHC multigene deletions
- [35] Click here.
Allelic multigene duplications
- [36] Bottaro, A. et al., Immunogenetics, 37, 356-363 (1993).
Distance between the IGHC genes
- [37] Flanagan, J.G. and Rabbitts, T.H., Nature, 300,709-713 (1982).
Localization of IGHGP between IGHA1 and IGHG2
- [38] Lefranc, M.-P. et al., Mol. Biol. Med., 1, 207-217 (1983). PMID:6438434
JH-Cmu enhancer
- [39] Hayday, A.C. et al., Nature, 307, 334-340 (1984). PMID:6420706
3' enhancers
- [40] Mills, F.C. et al., J. Exp. Med., 186, 845-858 (1997).