Home LiteratureArticle Details
PMID: 2894757 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

Analysis of genetic variation reveals human immunoglobulin VH-region gene organization.

American journal of human genetics ·Vol. 42 ·No. 3 ·1988-03-00 ·Pages 446-51

Walter MA, Cox DW

Abstract

We have investigated the extent of genetic variation and the number of germ-line heavy-chain-variable (VH) genes to obtain information on the organization and repertoire of the VH genes. Our studies revealed extensive genetic variation in this region, indicated by restriction-endonuclease site polymorphisms. Analysis of the distribution of selected polymorphic loci revealed evidence of linkage disequilibrium, particularly between VH2 and VH3 subclass loci, indicating that the subclasses are interdispersed in the human germ-line chromosome. Absolute correlation was detected between alleles of a VH2 locus and the alleles of three VH3 loci, evidence for an extra set of VH genes, which are present in 48% of the Caucasian population. A preliminary estimate of the number of VH genes, approximately 50, indicates a smaller number of VH genes than suggested by the amount of protein variation. The extensive genetic variation we have observed may be associated with genetic differences in the immune response and potentially with variable susceptibility to autoimmune disorders.

MeSH Terms
Alleles DNA/genetics Gene Frequency Genes, Immunoglobulin Genetic Linkage Genetic Variation Humans Immunoglobulin Heavy Chains/genetics Immunoglobulin Variable Region/genetics Polymorphism, Restriction Fragment Length
Chemicals
Immunoglobulin Heavy Chains Immunoglobulin Variable Region DNA
Authors & Affiliations
2 authors, click to expand affiliations / ORCID
Walter M A
Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada.
Cox D W
References (18)
18 references, click to expand
  1. Structure and multiplicity of genes for the human immunoglobulin heavy chain variable region.
    Proc Natl Acad Sci U S A. 1980 Nov;77(11):6561-5 PMID: 6450418
  2. Apa I polymorphism of a human immunoglobin VH3 subclass locus.
    Nucleic Acids Res. 1987 Jun 11;15(11):4697 PMID: 2884630
  3. Organization and evolution of immunoglobulin VH gene subgroups.
    Proc Natl Acad Sci U S A. 1982 Jul;79(14):4405-9 PMID: 6812048
  4. Somatic generation of antibody diversity.
    Nature. 1983 Apr 14;302(5909):575-81 PMID: 6300689
  5. Analysis of a break in chromosome 14 mapping to the region of the immunoglobulin heavy chain locus.
    Proc Natl Acad Sci U S A. 1983 Apr;80(7):1997-2001 PMID: 6403943
  6. Restriction fragment length polymorphisms associated with immunoglobulin C gamma genes reveal linkage disequilibrium and genomic organization.
    Proc Natl Acad Sci U S A. 1983 Nov;80(22):6952-6 PMID: 6316337
  7. Rearranged immunoglobulin heavy chain variable region (VH) pseudogene that deletes the second complementarity-determining region.
    Proc Natl Acad Sci U S A. 1984 Aug;81(16):5194-8 PMID: 6089186
  8. The immunoglobulin heavy chain variable region (Igh-V) locus in the mouse. I. One hundred Igh-V genes comprise seven families of homologous genes.
    Eur J Immunol. 1984 Oct;14(10):922-30 PMID: 6092095
  9. Preferential utilization of the most JH-proximal VH gene segments in pre-B-cell lines.
    Nature. 1984 Oct 25-31;311(5988):727-33 PMID: 6092962
  10. Immunoglobulin genes of different subgroups are interdigitated within the VK locus.
    Nucleic Acids Res. 1984 Dec 21;12(24):9229-36 PMID: 6440122
  11. Polymorphisms of a human variable heavy chain gene show linkage with constant heavy chain genes.
    Proc Natl Acad Sci U S A. 1984 Dec;81(24):7840-4 PMID: 6096861
  12. Immunoglobulin gene organization of ultraviolet-illuminated human lymphoblastoid cell lines producing both IgM and IgG.
    Mol Biol Med. 1984 Oct;2(5):337-50 PMID: 6443613
  13. Regulation of the assembly and expression of variable-region genes.
    Annu Rev Immunol. 1986;4:339-68 PMID: 3085692
  14. High rate of somatic point mutation in vitro in and near the variable-region segment of an immunoglobulin heavy chain gene.
    Proc Natl Acad Sci U S A. 1986 Sep;83(18):6950-3 PMID: 3092221
  15. One heavy chain variable region gene segment subfamily in the BALB/c mouse contains 500-1000 or more members.
    Cell. 1986 Nov 7;47(3):461-70 PMID: 3094964
  16. Organization and evolution of variable region genes of the human immunoglobulin heavy chain.
    J Mol Biol. 1986 Aug 20;190(4):529-41 PMID: 3097326
  17. Human immunoglobulin variable region genes: a new VH sequence used to detect polymorphism.
    Immunogenetics. 1987;25(3):184-92 PMID: 2881886
  18. Organization of genes and spacers within the mouse immunoglobulin VH locus.
    J Mol Appl Genet. 1981;1(3):245-61 PMID: 6286826
Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
Published
1988-03-00
Pages
446-51
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1715142
Subset
IM
External Links
PubMed source PMC Full Text View journal details
Analysis Services
Analysis Services

Contact

No. 2 Wenbo Road, Zhangqiu District, Jinan, Shandong

Qilu Normal University · Genelibs Bioinformatics Lab

750 Shunhua Rd, Jinan

2F, Bldg F, University Science Park

Tel: 0531-88819269

WeChat Official Account

Follow our WeChat subscription account for real-time updates and the latest in medical and biological research.


Business Email

E-mail: product@genelibs.com

Copyright © 2026.Genelibs Jinan Honghui Biotechnology Co., Ltd. 鲁ICP备20007159号-2