Molecular characterisation of KIR2DS2*005, a fusion gene associated with a shortened KIR haplotype (original) (raw)

Genes & Immunity volume 12, pages 544–551 (2011)Cite this article

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Abstract

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.

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Acknowledgements

This work was supported by grants BFU2005–04622 and SAF2010-22153-C03-03, from the Spanish Ministerio de Ciencia e Innovación. We thank María Cañizares for excellent technical assistance.

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Authors and Affiliations

  1. Inmunogenética—HLA, Hospital Universitario Puerta de Hierro, Majadahonda, Spain
    D Ordóñez, N Gómez-Lozano, L Rosales & C Vilches

Authors

  1. D Ordóñez
  2. N Gómez-Lozano
  3. L Rosales
  4. C Vilches

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Correspondence toC Vilches.

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Ordóñez, D., Gómez-Lozano, N., Rosales, L. et al. Molecular characterisation of KIR2DS2*005, a fusion gene associated with a shortened KIR haplotype.Genes Immun 12, 544–551 (2011). https://doi.org/10.1038/gene.2011.35

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