ArticleAmerican journal of human genetics2008
Gross deletions involving IGHM, BTK, or Artemis: a model for genomic lesions mediated by transposable elements.
Article in American journal of human genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers.
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Who cites it
38 citing papers in PubMed, 84 citations in OpenAlex.
- Autosomal recessive agammaglobulinemia due to compound heterozygous IGHM alterations identified: a case report.Frontiers in medicine · 2026Article
- Whole Genome Sequencing in 25 Families with Suspected Inborn Errors of Immunity: Diagnostic Yield and Clinical Relevance of Genome-wide Analysis.Journal of clinical immunology · 2025Article
- Clinical and Genetic Characterization of Patients with Artemis Deficiency in Japan.Journal of clinical immunology · 2023Article
- Identification of Germline Non-coding Deletions in XIAP Gene Causing XIAP Deficiency Reveals a Key Promoter Sequence.Journal of clinical immunology · 2022Article
- BLNK mutation associated with T-cell LGL leukemia and autoimmune diseases: Case report in hematology.Frontiers in medicine · 2022Article
- The Transposable Element Environment of Human Genes Differs According to Their Duplication Status and Essentiality.Genome biology and evolution · 2021Article
- Beyond monogenetic rare variants: tackling the low rate of genetic diagnoses in predominantly antibody deficiency.Cellular & molecular immunology · 2021Review
- Whole genome sequencing identifies novel structural variant in a large Indian family affected with X-linked agammaglobulinemia.PloS one · 2021Article
- Case Report: Infantile-Onset Fulminant Type 1 Diabetes Mellitus Caused by Novel Compound HeterozygousFrontiers in immunology · 2021Article
- Influenza-specific IgG1Clinical & translational immunology · 2020Article
- Hyper IgE Syndrome Associated With Warts: A First Case of Dedicator of Cytokinesis 8 Deficiency in the Philippines.Frontiers in pediatrics · 2020Article
- A large intragenic deletion in the CLCN1 gene causes Hereditary Myotonia in pigs.Scientific reports · 2019Article
- Breakpoint junction features of seven DMD deletion mutations.Human genome variation · 2019Article
- Predominantly Antibody-Deficient Patients With Non-infectious Complications Have Reduced Naive B, Treg, Th17, and Tfh17 Cells.Frontiers in immunology · 2019Article
- Clinical implications of systematic phenotyping and exome sequencing in patients with primary antibody deficiency.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Deficiency.Journal of clinical immunology · 2018Review
- Autosomal recessive agammaglobulinemia due to defect in μ heavy chain caused by a novel mutation in the IGHM gene.Genes and immunity · 2017Article
- Intragenic Deletions in ATP7B as an Unusual Molecular Genetics Mechanism of Wilson's Disease Pathogenesis.PloS one · 2016Article
- Enteroviral Infection in a Patient with BLNK Adaptor Protein Deficiency.Journal of clinical immunology · 2015Article
- Involvement of a citrus meiotic recombination TTC-repeat motif in the formation of gross deletions generated by ionizing radiation and MULE activation.BMC genomics · 2015Article
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Authors and funding
14 authors at 9 institutions in 6 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Most genetic disruptions underlying human disease are microlesions, whereas gross lesions are rare with gross deletions being most frequently found (6%). Similar observations have been made in primary immunodeficiency genes, such as BTK, but for unknown reasons the IGHM and DCLRE1C (Artemis) gene defects frequently represent gross deletions ( approximately 60%). We characterized the gross deletion breakpoints in IGHM-, BTK-, and Artemis-deficient patients. The IGHM deletion breakpoints did not show involvement of recombination signal sequences or immunoglobulin switch regions. Instead, five IGHM, eight BTK, and five unique Artemis breakpoints were located in or near sequences derived from transposable elements (TE). The breakpoints of four out of five disrupted Artemis alleles were located in highly homologous regions, similar to Ig subclass deficiencies and Vh deletion polymorphisms. Nevertheless, these observations suggest a role for TEs in mediating gross deletions. The identified gross deletion breakpoints were mostly located in TE subclasses that were specifically overrepresented in the involved gene as compared to the average in the human genome. This concerned both long (LINE1) and short (Alu, MIR) interspersed elements, as well as LTR retrotransposons (ERV). Furthermore, a high total TE content (>40%) was associated with an increased frequency of gross deletions. Both findings were further investigated and confirmed in a total set of 20 genes disrupted in human disease. Thus, to our knowledge for the first time, we provide evidence that a high TE content, irrespective of the type of element, results in the increased incidence of gross deletions as gene disruption underlying human disease.
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