2004
DOI: 10.1002/eji.200425493
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The silent KIR3DP1 gene (CD158c) is transcribed and might encode a secreted receptor in a minority of humans, in whom the KIR3DP1, KIR2DL4 and KIR3DL1/KIR3DS1 genes are duplicated

Abstract: Killer-cell Ig-like receptors (KIR) are structurally and functionally diverse, and enable human NK cells to survey the expression of individual HLA class I molecules, often altered in infections and tumors. Multiple events of non-reciprocal recombination have contributed to the rapid diversification of KIR. We show that *4.5% of the individuals of a Caucasoid population bear a recombinant allele of KIR3DP1, officially designed KIR3DP1*004, that associates tightly with gene duplications of KIR3DP1, KIR2DL4 and … Show more

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Cited by 72 publications
(90 citation statements)
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“…7 Besides point mutation, species acquire new KIR with novel functions more rapidly by asymmetric recombination. This leads, in first place, to haplotypes with gene loss and gene duplication, 14,15 which seem the origin of KIR2DS2 and KIR2DL2, encoded by paralogous genes. When recombination takes place within a gene, the resulting hybrids combine features (binding, signalling and mRNA expression) of the receptors that participated in the recombination.…”
Section: Discussionmentioning
confidence: 99%
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“…7 Besides point mutation, species acquire new KIR with novel functions more rapidly by asymmetric recombination. This leads, in first place, to haplotypes with gene loss and gene duplication, 14,15 which seem the origin of KIR2DS2 and KIR2DL2, encoded by paralogous genes. When recombination takes place within a gene, the resulting hybrids combine features (binding, signalling and mRNA expression) of the receptors that participated in the recombination.…”
Section: Discussionmentioning
confidence: 99%
“…We have proposed previously that such mechanism explains haplotypes carrying duplications or deletions of the same central genes in the KIR cluster-KIR3DP1, KIR2DL4 and KIR3DL1/S1. 15 The counterpart of the KIR2DS2*005-associated haplotype would be the one carrying a chimera coding for the Ig-like domains of KIR2DS3 fused to a KIR2DS2 tail, and duplicated KIR2DL2, KIR2DL5B and KIR2DS3 genes. Such haplotypes are yet to be found, and we have failed to identify the putative chimerical KIR2DS3 allele using PCR primers for its predicted sixth intron.…”
Section: Discussionmentioning
confidence: 99%
“…Comparison with the non-reciprocal recombination event involving the same two haplotypes (this issue; [22]) (Fig. 2B) suggests that there is in fact no principal distinction between the molecular events leading to reciprocal or non-reciprocal recombination in the KIR locus.…”
Section: Mechanisms Of Kir Diversification Non-reciprocal Crossing Overmentioning
confidence: 98%
“…Thus, allelic variation would enable two individuals whose NK cells express KIR with similar specificity to mount quantitatively different immune responses and in this way to broaden the spectrum of resistance to infection in the population. It should of course be mentioned that alleles that confer loss of function (gene expression is completely shut down or the protein structure becomes otherwise compromised) [19][20][21] or gain of function (this issue [22]) ultimately mimic absence or presence of the respective gene and thus can change NK cell specificity, too.…”
Section: Differential Functional Contributions Of Polygenic and Allelmentioning
confidence: 99%
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