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A common KIR2DS4 deletion variant in the human that predicts a soluble KIR molecule analogous to the KIR1D molecule observed in the rhesus monkey

Authors

  • L.D. Maxwell,

    1. Northern Ireland Regional Histocompatibility and Immunogenetics Laboratory, City Hospital, Belfast, Northern Ireland
    2. School of Biology and Biochemistry, Queen's University of Belfast, Northern Ireland
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  • A. Wallace,

    1. School of Biology and Biochemistry, Queen's University of Belfast, Northern Ireland
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  • D. Middleton,

    1. Northern Ireland Regional Histocompatibility and Immunogenetics Laboratory, City Hospital, Belfast, Northern Ireland
    2. School of Biology and Biochemistry, Queen's University of Belfast, Northern Ireland
    3. School of Biomedical Sciences, University of Ulster, Coleraine, Northern Ireland
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  • M.D. Curran

    1. Northern Ireland Regional Histocompatibility and Immunogenetics Laboratory, City Hospital, Belfast, Northern Ireland
    2. School of Biology and Biochemistry, Queen's University of Belfast, Northern Ireland
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Martin D. Curran
Northern Ireland Regional Histocompatibility and Immunogenetics Laboratory
Blood Transfusion Building
City Hospital
Belfast
BT9 7TS
Northern Ireland
e-mail: martin.curran@addenbrookes.nhs.uk

Abstract

Abstract: A KIR2DS4 deletion variant allele, previously identified through KIR PCR-SSOP typing studies, was characterized, alongside a normal KIR2DS4 allele, by cDNA cloning and sequencing and its prevalence in the population determined using a deletion specific probe. The KIR2DS4 deletion variant was found in 72 of the 90 individuals screened and differed from the normal KIR2DS4 sequence by a single 22 bp deletion in exon 5. The deletion causes a frameshift predicting a truncated KIR2DS4 protein with a significantly altered D2 domain that would be secreted due to the loss of the transmembrane/cytoplasmic domains. Parallels with a recent study in the rhesus monkey highlighting access to the same open reading frame as the deletion variant, also predicting a soluble KIR molecule, are drawn.

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