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Updated: Dec 22, 2025
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Identification of Mouse and Human Antibody Repertoires by Next-Generation Sequencing
Published on: March 15, 2019
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Polymorphisms in human immunoglobulin heavy chain variable genes and their upstream regions
Ivana Mikocziova1, Moriah Gidoni2, Ida Lindeman1
1K.G.Jebsen Centre for Coeliac Disease Research and Department of Immunology, University of Oslo and Oslo University Hospital, 0372 Oslo, Norway.
Nucleic Acids Research
|May 5, 2020
Summary
Researchers discovered 10 new germline alleles for immunoglobulin heavy variable (IGHV) genes, revealing significant genetic diversity in both coding and upstream regions. This finding enhances understanding of B cell receptor diversity and disease susceptibility.
Area of Science:
- Immunogenetics
- Molecular immunology
- Genomics
Background:
- Germline variations in immunoglobulin genes significantly shape B cell receptor and antibody repertoires.
- These genetic polymorphisms are linked to disease susceptibility, yet genomic variation in immunoglobulin loci remains poorly understood.
Purpose of the Study:
- To identify novel germline alleles of immunoglobulin heavy variable (IGHV) genes.
- To investigate the extent of genetic variation within the IGHV loci, including upstream regulatory sequences.
Main Methods:
- Inferred potential novel IGHV alleles from rearranged naïve B cell cDNA repertoires of 98 individuals.
- Validated selected novel alleles through targeted amplification and Sanger sequencing of non-B cell DNA.
Main Results:
- Identified 25 potential novel germline IGHV alleles.
- Successfully confirmed 10 out of 13 validated alleles.
- Detected substantial variability in 5' untranslated region (5'UTR), L-PART1, and L-PART2 sequences upstream of the V-REGION.
- Demonstrated that identical V-REGION alleles can exhibit distinct upstream sequences.
Conclusions:
- Significant genetic variation exists not only within the V-REGION but also in the upstream sequences of IGHV genes.
- The identified novel alleles and upstream sequence variability offer a new framework for annotating immunoglobulin repertoire sequencing data.
- These findings contribute to a deeper understanding of immune system genetic diversity and its implications for health and disease.
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