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A common 56-kilobase deletion in a primate-specific segmental duplication creates a novel butyrophilin-like protein

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dc.contributor.author Aigner, Johanna, 1981-
dc.contributor.author Villatoro, Sergi
dc.contributor.author Rabionet, Raquel
dc.contributor.author Roquer, Jaume
dc.contributor.author Jiménez Conde, Jordi
dc.contributor.author Martí, Eulàlia
dc.contributor.author Estivill, Xavier, 1955-
dc.date.accessioned 2015-03-17T08:18:05Z
dc.date.available 2015-03-17T08:18:05Z
dc.date.issued 2013
dc.identifier.citation Aigner J, Villatoro S, Rabionet R, Roquer J, Jiménez-Conde J, Martí E, Estivill X. A common 56-kilobase deletion in a primate-specific segmental duplication creates a novel butyrophilin-like protein. BMC Genetics. 2013; 14: 61. DOI 10.1186/1471-2156-14-61
dc.identifier.issn 1471-2156
dc.identifier.uri http://hdl.handle.net/10230/23197
dc.description.abstract Background: The 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. Results: In 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. Conclusion: Despite 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.
dc.description.sponsorship The project was supported by grants from Obra Social La Caixa to J.A.; the Ramon y Cajal program to R.R.; the Spanish Ministry of Science and Innovation, Instituto de Salud Carlos III with the grants "Registro BASICMAR" Funding for Research in Health (PI051737), "GWALA project" from Fondos de Investigación Sanitaria ISC III (PI10/02064); and Fondos FEDER/EDRF Red de Investigación Cardiovascular (RD12/0042/0020) and the Fundació la Marató TV3 with the grant "GOD's project. Genestroke Consortium" (76/C/2011) to J.R. and J.J.C.; the Spanish Ministry of Science and Innovation (SAF2008-00357to NOVADIS project); the European Commission (ENGAGE project and grant agreement HEALTH-F4-2007-201413); and the Generalitat de Catalunya (Agència de Gestió d’Ajuts Universitaris i de Recerca-AGAUR) to X.E
dc.format.mimetype application/pdf
dc.language.iso eng
dc.publisher BioMed Central
dc.relation.ispartof BMC Genetics. 2013; 14: 61
dc.rights © 2013 Aigner et al.; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
dc.rights.uri http://creativecommons.org/licenses/by/2.0
dc.subject.other Primats -- Genètica
dc.subject.other Seqüència d'aminoàcids
dc.subject.other ADN
dc.title A common 56-kilobase deletion in a primate-specific segmental duplication creates a novel butyrophilin-like protein
dc.type info:eu-repo/semantics/article
dc.identifier.doi http://dx.doi.org/10.1186/1471-2156-14-61
dc.relation.projectID info:eu-repo/grantAgreement/EC/FP7/201413
dc.relation.projectID info:eu-repo/grantAgreement/ES/3PN/SAF2008-00357
dc.rights.accessRights info:eu-repo/semantics/openAccess
dc.type.version info:eu-repo/semantics/publishedVersion


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