Molecular characterisation of KIR2DS2*005, a fusion gene associated with a shortened KIR haplotype
| العنوان: | Molecular characterisation of KIR2DS2*005, a fusion gene associated with a shortened KIR haplotype |
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| المؤلفون: | Natalia Gómez-Lozano, Carlos Vilches, David Ordóñez, L Rosales |
| المصدر: | Genes & Immunity. 12:544-551 |
| بيانات النشر: | Springer Science and Business Media LLC, 2011. |
| سنة النشر: | 2011 |
| مصطلحات موضوعية: | Unequal crossing over, Molecular Sequence Data, Immunology, Population, Receptors, Cell Surface, Biology, White People, Epitope, Fusion gene, Receptors, KIR, Gene Order, Genetics, Humans, education, Gene, Alleles, Genetics (clinical), education.field_of_study, Base Sequence, Haplotype, Intron, Molecular biology, Introns, Gene Expression Regulation, Haplotypes, Ectodomain, Female, Gene Fusion, Sequence Alignment |
| الوصف: | KIR2DS2 is an activating homologue of KIR2DL2, an inhibitory killer-cell immunoglobulin-like receptor (KIR) that surveys expression of major histocompatibility complex-C allotypes bearing a C1 epitope. We have studied here its allele KIR2DS2*005, which shows a hybrid structure-it is identical to other KIR2DS2 alleles in the ectodomain, but has transmembrane and cytoplasmic regions identical to those of KIR2DS3(*)001, a short-tailed KIR of uncertain expression and function. Our results reveal that KIR2DS2*005 is a fusion gene-the product of an unequal crossing over by which the genes KIR2DS2 and KIR2DS3 recombined within a 400 base pair region of complete identity in intron 6. Also resulting from that recombination was a shortened KIR haplotype of the B group, in which three genes commonly linked to KIR2DS2 (KIR2DL2, KIR2DL5B and KIR2DS3) are deleted. Population studies indicate that KIR2DS2*005 is still associated to such haplotype, and it can be found in approximately 1.2% of Caucasoids. Using a combination of two monoclonal antibodies, we also demonstrate that KIR2DS2*005 encodes a molecule expressed on the surface of natural killer- and T-lymphocytes. |
| تدمد: | 1476-5470 1466-4879 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab8173b547dd8df04f417a52a256c877 https://doi.org/10.1038/gene.2011.35 |
| حقوق: | CLOSED |
| رقم الأكسشن: | edsair.doi.dedup.....ab8173b547dd8df04f417a52a256c877 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 14765470 14664879 |
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