ArticleGenes and immunity2005
Determination of gene organization in the human IGHV region on single chromosomes.
Article in Genes and immunity, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 31 citations in OpenAlex.
- Epigenetic-Genetic Coupling and Understanding the Molecular and Cellular Basis of Lamarckian Inheritance.International journal of molecular sciences · 2026Review
- Genetic variation in the immunoglobulin heavy chain locus shapes the human antibody repertoire.Nature communications · 2023Article
- Frequent use of IGHV3-30-3 in SARS-CoV-2 neutralizing antibody responses.Frontiers in virology (Lausanne, Switzerland) · 2023Article
- Contribution of the TCRβ Repertoire to Marek's Disease Genetic Resistance in the Chicken.Viruses · 2023Article
- Autoantibody repertoire characterization provides insight into the pathogenesis of monogenic and polygenic autoimmune diseases.Frontiers in immunology · 2023Article
- T cell receptor beta germline variability is revealed by inference from repertoire data.Genome medicine · 2022Article
- Inter- and intraspecies comparison of phylogenetic fingerprints and sequence diversity of immunoglobulin variable genes.Immunogenetics · 2020Article
- A Novel Framework for Characterizing Genomic Haplotype Diversity in the Human Immunoglobulin Heavy Chain Locus.Frontiers in immunology · 2020Article
- Per-sample immunoglobulin germline inference from B cell receptor deep sequencing data.PLoS computational biology · 2019Article
- Worldwide genetic variation of the IGHV and TRBV immune receptor gene families in humans.Life science alliance · 2019Article
- On being the right size: antibody repertoire formation in the mouse and human.Immunogenetics · 2018Review
- Immunoglobulin Light Chain Gene Rearrangements, Receptor Editing and the Development of a Self-Tolerant Antibody Repertoire.Frontiers in immunology · 2018Review
- The Individual and Population Genetics of Antibody Immunity.Trends in immunology · 2017Review
- Estimating Copy Number and Allelic Variation at the Immunoglobulin Heavy Chain Locus Using Short Reads.PLoS computational biology · 2016Article
- Complete haplotype sequence of the human immunoglobulin heavy-chain variable, diversity, and joining genes and characterization of allelic and copy-number variation.American journal of human genetics · 2013Article
- The immunoglobulin heavy chain locus: genetic variation, missing data, and implications for human disease.Genes and immunity · 2012Review
- The inference of phased haplotypes for the immunoglobulin H chain V region gene loci by analysis of VDJ gene rearrangements.Journal of immunology (Baltimore, Md. : 1950) · 2012Article
- Segmental duplication as one of the driving forces underlying the diversity of the human immunoglobulin heavy chain variable gene region.BMC genomics · 2011Article
- Gross deletions involving IGHM, BTK, or Artemis: a model for genomic lesions mediated by transposable elements.American journal of human genetics · 2008Article
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
Abstract
Organization of the IGHV genes (n=108) on single human chromosomes has been determined by detecting these sequences in single sperm using multiplex PCR amplification followed by microarray detection. A total of 374 single sperm samples from five Caucasian males were studied. Three deletion/insertion polymorphisms (Del I-Del III) with deletion allele frequencies ranging from 0.1 to 0.3 were identified. Del I is a previously reported polymorphism affecting three IGHV genes (IGHV1-8, IGHV3-9, and IGHV2-10). Del II affects a region 2-18 kb containing two pseudogenes IGHV(II)-28.1 and IGHV3-29, and Del III spans approximately 21-53 kb involving genes IGHV4-39, IGHV7-40, IGHV(II)-40-1, and IGHV3-41. Deletion alleles of both Dels II and III were found in a heterozygous state, and therefore, could not be easily detected if haploid samples were not used in the study. Results of the present study indicate that deletions/insertions together with other possible chromosomal rearrangements may play an important role in forming the genetic structure of the IGHV region, and may significantly contribute to antibody diversity. Since these three polymorphisms are located within or next to the 3' half of the IGHV region, they may have an important role in the expressed IGHV gene repertoire during immune response.
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