ArticleNucleic acids research2020
Polymorphisms in human immunoglobulin heavy chain variable genes and their upstream regions.
Article in Nucleic acids research, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 40 citations in OpenAlex.
- Characterization of immunoglobulin loci inNAR genomics and bioinformatics · 2026Article
- An integrated human immunoglobulin germline resource linking allele diversity to expressed repertoire structure.bioRxiv : the preprint server for biology · 2026Article
- Immunoglobulin gene polymorphisms shape the naïve B-cell receptor repertoire; relevance to celiac disease.Genes and immunity · 2026Article
- Novel polymorphic and copy number diversity in the antibody IGH locus of South African individuals.Immunogenetics · 2024Article
- An unbiased comparison of immunoglobulin sequence aligners.Briefings in bioinformatics · 2024Article
- Digger: directed annotation of immunoglobulin and T cell receptor V, D, and J gene sequences and assemblies.Bioinformatics (Oxford, England) · 2024Article
- IGHV allele similarity clustering improves genotype inference from adaptive immune receptor repertoire sequencing data.Nucleic acids research · 2023Article
- Polygenic genetic variation affecting antibody formation underlies hypertensive renal injury in the stroke-prone spontaneously hypertensive rat.American journal of physiology. Renal physiology · 2023Article
- AIRR-C IG Reference Sets: curated sets of immunoglobulin heavy and light chain germline genes.Frontiers in immunology · 2023Article
- Analysis of IGH allele content in a sample group of rheumatoid arthritis patients demonstrates unrevealed population heterogeneity.Frontiers in immunology · 2023Article
- IMGTVaccines · 2022Article
- T cell receptor beta germline variability is revealed by inference from repertoire data.Genome medicine · 2022Article
- Addressing IGHV Gene Structural Diversity Enhances Immunoglobulin Repertoire Analysis: Lessons From Rhesus Macaque.Frontiers in immunology · 2022Article
- Individualized VDJ recombination predisposes the available Ig sequence space.Genome research · 2021Article
- Germline polymorphisms and alternative splicing of human immunoglobulin light chain genes.iScience · 2021Article
- Local adaptation and archaic introgression shape global diversity at human structural variant loci.eLife · 2021Article
- Immunoglobulin germline gene variation and its impact on human disease.Genes and immunity · 2021Review
- Novel Allele Detection Tool Benchmark and Application With Antibody Repertoire Sequencing Dataset.Frontiers in immunology · 2021Article
- Computational Inference, Validation, and Analysis of 5'UTR-Leader Sequences of Alleles of Immunoglobulin Heavy Chain Variable Genes.Frontiers in immunology · 2021Article
- Germline immunoglobulin genes: disease susceptibility genes hidden in plain sight?Current opinion in systems biology · 2020Article
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Authors and funding
7 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Germline variations in immunoglobulin genes influence the repertoire of B cell receptors and antibodies, and such polymorphisms may impact disease susceptibility. However, the knowledge of the genomic variation of the immunoglobulin loci is scarce. Here, we report 25 potential novel germline IGHV alleles as inferred from rearranged naïve B cell cDNA repertoires of 98 individuals. Thirteen novel alleles were selected for validation, out of which ten were successfully confirmed by targeted amplification and Sanger sequencing of non-B cell DNA. Moreover, we detected a high degree of variability upstream of the V-REGION in the 5'UTR, L-PART1 and L-PART2 sequences, and found that identical V-REGION alleles can differ in upstream sequences. Thus, we have identified a large genetic variation not only in the V-REGION but also in the upstream sequences of IGHV genes. Our findings provide a new perspective for annotating immunoglobulin repertoire sequencing data.
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