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Citing this page: Lefranc M-P. et al. (1982) Nature 300:760-762 PMID: 6817143. pdf Lefranc M-P. et Lefranc G. (1987) FEBS Lett 213:231-237 PMID: 3104087. pdf Wiebe V. et al. (1994) Human Genetics, 93, 520-528 PMID: 8168828 pdf

Immunoglobulin heavy constant (IGHC) multigene deletions in healthy individuals.

Multigene immunoglobulin heavy constant (IGHC) deletions have been found in healthy individuals, either homozygous for the same deletion or heterozygous for two different deletions, in the IGH locus.
They represent gene copy number variations (CNV) and correspond to different haplotypes.

Hu_IGH_FG_2

Deletions I [1,2] and II [3] contributed to order the Homo sapiens IGHC gene in the IGH locus.
These multigene IGHC deletions involve highly homologous spots of recombination [4], as also described for deletion III [5].

Six different multigene haplotypes have been identified, designed I to VI according to the chronogical order in which they were found :

    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).

Table. Different types of IGHC multigene deletions in healthy individuals.
Origine Number of cases Proband Absent immunoglobulins Genotypes with reference to the type of deletion References
Family HASS
Tunisia 		3 TAK3 (1) IgG1, IgA1, IgG2, IgG4 I/I Lefranc M-P. et al. (1982) [1]
Lefranc G. et al. (1983) [2]
Family TOU
Tunisia		 3 TOU II-I
TOU II-4 (EZZ)
TOU II-5		 IgG1, IgA1, IgG2, IgG4 I/I Lefranc M-P. et al. (1982 [1], 1983 [3])
2 TOU I-2
TOU II-3		 IgA1 I/II Lefranc M-P. et al. (1983) [3]
Italy 4 SAF I-2
DEM
R.B.
D.B.		 IgA1, IgG2, IgG4, IgE III/III Migone N. et al. (1984) [6]
Bottaro A. et al. (1989) [7]
Plebani A. et al. (1993) [8]
Tunisia 1 T17 IgA1, IgG2, IgG4, IgE III/III (2) Wiebe V. et al. (1994) [5]
Sardinia 1 FRO I-2 IgA1, IgG2, IgG4 III/IV Migone N. et al. (1984) [6]
Italy 2 TIM
MOD		 IgG2 III/del G2 Bottaro A. et al. (1989) [7]
Italy 1 CRU IgG2, IgG4, IgE, IgA2 V/V Bottaro A. et al. (1989) [7]
Sweden 1 NY (3) IgG1 VI/del G1 Smith C.I.E. et al. (1989) [9]

(1) The two grandsons of TAK3 display the same type of deletion, also in the homozygous state (Lefranc M-P and Lefranc G 1987) [10], Lefranc et al. (1991) [11].

(2) The T17 deletion was erroneously interpreted as of type IV in Chaabani et al. (1985) [11,12]. Wiebe et al. (1994) [5] demonstrate the deletion of the IGHE gene and the absence of IgE, and characterize the deletion as of type III.

(3) This individual has an increased susceptibility to infections, but there is no evidence that this was linked to the IGHC deletions. The IGHG1 deletion is most probably polymorphic as shows by Sukernik R.I. et al. (1992) [13] in populations of Northwestern Siberia.

More information:
References :
  1. [1] Lefranc M-P. et al. (1982). Nature 300:760-762. PMID: 6817143
  2. [2] Lefranc G. et al. (1983). Eur J Immunol 13:240-244. PMID: 6832214
  3. [3] Lefranc M-P. et al. (1983). Mol Biol Med 1:207-217. PMID: 6438434
  4. [4] Keyeux G., Lefranc G., Lefranc M-P. (1989). Genomics 5:431-441. doi: 10.1016/0888-7543(89)90006-2. PMID: 2613231
  5. [5] Wiebe V. et al. (1994). Human Genetics, 93, 520-528. PMID: 8168828
  6. [6] Migone N, et al. (1984). Proc NatlAcad Sci USA 81:5811-5815. PMID: 6435120
  7. [7] Bottaro A, et al. (1989). lmmunogenetics 29:44-48. PMID: 2535700
  8. [8] Plebani A. et al. (1993). Clin lmmunol Immunopathol 68:46-50. PMID: 8513593
  9. [9] Smith C.I.E. et al. (1989). J Immunol 142:4514-4519. PMID: 2498432
  10. [10] Lefranc M-P. and Lefranc G. (1987). FEBS Lett 213:231-237. PMID: 3104087
  11. [11] Chaabani H. et al. (1985). Am J Hum Genet 37: 1164-1171. PMID: 3002172
  12. [12] Lefranc M-P. et al. (1991). Immunodeficiency Rev 2:265-281. PMID: 1905558
  13. [13] Sukernik R.I. et al. (1992). Exp Clin Immunogenet.;9(1):15-23. PMID: 1642901
Created:
17/03/2014
Last updated:
Friday, 22-Sep-2023 18:21:41 CEST
Authors:
Marie-Paule Lefranc and Gérard Lefranc
Editors:
Amélie Houles and Mélanie Arrivet