A common KIR2DS4 deletion variant in the human that predicts a soluble KIR molecule analogous to the KIR1D molecule observed in the rhesus monkey.
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.
Maxwell
L D
LD
Northern Ireland Regional Histocompatibility and Immunogenetics Laboratory, City Hospital, Belfast, Northern Ireland.
Wallace
A
A
Middleton
D
D
Curran
M D
MD
D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D005091:Exons / Q000235:genetics; D017353:Gene Deletion; D006801:Humans; D007694:Killer Cells, Natural / Q000502:physiology; D008253:Macaca mulatta; D008969:Molecular Sequence Data; D011971:Receptors, Immunologic / Q000235:genetics* / Q000378:metabolism; D054340:Receptors, KIR; D012995:Solubility
C433932:KIR2DS2 protein, human; C473953:KIR2DS4 protein, human; D011971:Receptors, Immunologic; D054340:Receptors, KIR