title: Studies on the expression of the deleted KIR2DS4*003 gene product and distribution of KIR2DS4 deleted and nondeleted versions in different populations.
abstract: A KIR2DS4 deletion variant allele, previously identified through killer immunoglobulinlike receptor (KIR) polymerase chain reaction-sequence-specific oligonucleotide probe (PCR-SSOP) typing, was functionally investigated using an in vitro cell line model system and in vivo protein expression studies. The KIR2DS4 deletion variant has previously been found in 80% of individuals from Northern Ireland, indicating that it is present at a high incidence in this population. It differs from the normal KIR2DS4 sequence by a 22 bp deletion in exon 5, which causes a frame shift, yielding a truncated KIR2DS4 protein with loss of the transmembrane and cytoplasmic domains of the full-length KIR2DS4 protein. This study has determined that the deleted variant of KIR2DS4 is not anchored to the cell membrane but encodes a soluble form of the protein that is potentially secreted. The frequencies of the deleted and nondeleted versions were also determined in several world-wide populations. A trend was observed towards decreased frequencies of KIR2DS4 deleted variant occurrence in populations having KIR2DS4 as the only activating KIR gene.
authors.affiliation: Northern Ireland Regional Histocompatibility and Immunogenetics Laboratory, Belfast City Hospital, Belfast, Northern Ireland. derek.middleton@bll.n-i.nhs.uk
authors.forename: Derek
authors.initials: D
authors.lastname: Middleton
authors.forename: Asensio
authors.initials: A
authors.lastname: Gonzalez
authors.forename: Paula M
authors.initials: PM
authors.lastname: Gilmore
mesh_terms: D000818:Animals; D001938:Brazil; D019556:COS Cells; D002522:Chlorocebus aethiops; D003462:Cuba; D005387:Finland; D017353:Gene Deletion; D005787:Gene Frequency; D006723:Hong Kong; D006801:Humans; D007694:Killer Cells, Natural / Q000378:metabolism*; D008800:Mexico; D009850:Oman; D011971:Receptors, Immunologic / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D054340:Receptors, KIR; D012846:Singapore; D012995:Solubility; D013019:South Africa; D013030:Spain
chemical_list: C473953:KIR2DS4 protein, human; D011971:Receptors, Immunologic; D054340:Receptors, KIR