ArticleJournal of immunology (Baltimore, Md. : 1950)2010
Individual variation in the germline Ig gene repertoire inferred from variable region gene rearrangements.
Article in Journal of immunology (Baltimore, Md. : 1950), 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 158 papers.
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Who cites it
158 citing papers in PubMed, 262 citations in OpenAlex.
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- Epigenetic-Genetic Coupling and Understanding the Molecular and Cellular Basis of Lamarckian Inheritance.International journal of molecular sciences · 2026Review
- Germline polymorphisms in the immunoglobulin kappa and lambda loci underpinning antibody light chain repertoire variability.Nature communications · 2025Article
- Whole-genome sequencing reveals three follicular lymphoma subtypes with distinct cell of origin and patient outcomes.Cell reports. Medicine · 2025Article
- New insights into antibody structure with implications for specificity, variable region restriction and isotype choice.Nature reviews. Immunology · 2025Review
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- De novo antibody identification in human blood from full-length single B cell transcriptomics and matching haplotype-resolved germline assemblies.Genome research · 2025Article
- Gain efficiency with streamlined and automated data processing: Examples from high-throughput monoclonal antibody production.PloS one · 2025Article
- Current development of severe acute respiratory syndrome coronavirus 2 neutralizing antibodies (Review).Molecular medicine reports · 2024Review
- The multilevel extensive diversity across the cynomolgus macaque captured by ultra-deep adaptive immune receptor repertoire sequencing.Science advances · 2024Article
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- Stringent and complex sequence constraints of an IGHV1-69 broadly neutralizing antibody to influenza HA stem.Cell reports · 2023Article
- Probabilities of developing HIV-1 bNAb sequence features in uninfected and chronically infected individuals.Nature communications · 2023Article
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- IGHV allele similarity clustering improves genotype inference from adaptive immune receptor repertoire sequencing data.Nucleic acids research · 2023Article
- Genetic variation in the immunoglobulin heavy chain locus shapes the human antibody repertoire.Nature communications · 2023Article
- Analysis of IGH allele content in a sample group of rheumatoid arthritis patients demonstrates unrevealed population heterogeneity.Frontiers in immunology · 2023Article
- Comparing T cell receptor repertoires using optimal transport.PLoS computational biology · 2022Article
- Potent monoclonal antibodies neutralize Omicron sublineages and other SARS-CoV-2 variants.Cell reports · 2022Article
98 more citing papers are in PubMed but not listed here.
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Authors and funding
18 authors at 5 institutions in 3 countries.
Funding
Abstract
Individual variation in the Ig germline gene repertoire leads to individual differences in the combinatorial diversity of the Ab repertoire, but the study of such variation has been problematic. The application of high-throughput DNA sequencing to the study of rearranged Ig genes now makes this possible. The sequencing of thousands of VDJ rearrangements from an individual, either from genomic DNA or expressed mRNA, should allow their germline IGHV, IGHD, and IGHJ repertoires to be inferred. In addition, where previously mere glimpses of diversity could be gained from sequencing studies, new large data sets should allow the rearrangement frequency of different genes and alleles to be seen with clarity. We analyzed the DNA of 108,210 human IgH chain rearrangements from 12 individuals and determined their individual IGH genotypes. The number of reportedly functional IGHV genes and allelic variants ranged from 45 to 60, principally because of variable levels of gene heterozygosity, and included 14 previously unreported IGHV polymorphisms. New polymorphisms of the IGHD3-16 and IGHJ6 genes were also seen. At heterozygous loci, remarkably different rearrangement frequencies were seen for the various IGHV alleles, and these frequencies were consistent between individuals. The specific alleles that make up an individual's Ig genotype may therefore be critical in shaping the combinatorial repertoire. The extent of genotypic variation between individuals is highlighted by an individual with aplastic anemia who appears to lack six contiguous IGHD genes on both chromosomes. These deletions significantly alter the potential expressed IGH repertoire, and possibly immune function, in this individual.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.