ArticleBMC genetics2013
A common 56-kilobase deletion in a primate-specific segmental duplication creates a novel butyrophilin-like protein.
Article in BMC genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
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Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 33 citations in OpenAlex.
- A stop-gain variant inHGG advances · 2023Pooled it
- Exome Sequencing and Molecular Modeling Reveal Novel Loci in Familial Multiple Sclerosis: The Importance of BTNL3 and BTNL8 in Disease Pathogenesis.Molecular neurobiology · 2025Article
- Article
- Unravelling γδ T-cell dysregulation in the gut and its implications for immune-mediated diseases.Disease models & mechanisms · 2025Article
- Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C).The Journal of experimental medicine · 2024Article
- A distinct topology of BTN3A IgV and B30.2 domains controlled by juxtamembrane regions favors optimal human γδ T cell phosphoantigen sensing.Nature communications · 2023Article
- Conserved γδ T cell selection by BTNL proteins limits progression of human inflammatory bowel disease.Science (New York, N.Y.) · 2023Article
- Butyrophilins: γδ T Cell Receptor Ligands, Immunomodulators and More.Frontiers in immunology · 2022Review
- Extreme enrichment of VNTR-associated polymorphicity in human subtelomeres: genes with most VNTRs are predominantly expressed in the brain.Translational psychiatry · 2020Article
- Population-wide copy number variation calling using variant call format files from 6,898 individuals.Genetic epidemiology · 2020Article
- An evolving view of copy number variants.Current genetics · 2019Review
- An immunoproteomic approach to characterize the CAR interactome and signalosome.Science signaling · 2019Article
- A tailored approach to fusion transcript identification increases diagnosis of rare inherited disease.PloS one · 2019Article
- SeSAMe: reducing artifactual detection of DNA methylation by Infinium BeadChips in genomic deletions.Nucleic acids research · 2018Article
- TIGITNature communications · 2018Article
- Novel Immune Check-Point Regulators in Tolerance Maintenance.Frontiers in immunology · 2015Review
- Human gene copy number variation and infectious disease.Human genetics · 2014Review
- Immune modulation by butyrophilins.Nature reviews. Immunology · 2014Review
Corrections and comments
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Authors and funding
7 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe Butyrophilin-like (BTNL) proteins are likely to play an important role in inflammation and immune response. Like the B7 protein family, many human and murine BTNL members have been shown to control T lymphocytes response, and polymorphisms in human BTNL2 have been linked to several inflammatory diseases, such as pulmonary sarcoidosis, inflammatory bowel disease and neonatal lupus.
resultsIn this study we provide a comprehensive population, genomic and transcriptomic analysis of a 56-kb deletion copy number variant (CNV), located within two segmental duplications of two genes belonging to the BTNL family, namely BTNL8 and BTNL3. We confirm the presence of a novel BTNL8*3 fusion-protein product, and show an influence of the deletion variant on the expression level of several genes involved in immune function, including BTNL9, another member of the same family. Moreover, by genotyping HapMap and human diversity panel (HGDP) samples, we demonstrate a clear difference in the stratification of the BTNL8_BTNL3-del allele frequency between major continental human populations.
conclusionDespite tremendous progress in the field of structural variation, rather few CNVs have been functionally characterized so far. Here, we show clear functional consequences of a new deletion CNV (BTNL8_BTNL3-del) with potentially important implication in the human immune system and in inflammatory and proliferative disorders. In addition, the marked population differences found of BTNL8_BTNL3-del frequencies suggest that this deletion CNV might have evolved under positive selection due to environmental conditions in some populations, with potential phenotypic consequences.
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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.