Gene Structure and Promoter Variation of Expressed and Nonexpressed Variants of the <i>KIR2DL5</i> Gene

Vilches, Carlos; Gardiner, Clair M.; Parham, Peter

doi:10.4049/jimmunol.165.11.6416

Cited by 85 publications

(134 citation statements)

References 28 publications

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“…6,9 The known regulatory elements in the promoter region are conserved in all KIR2DL5 sequences. 13 Of the 21 distinct KIR2DL5 sequences, eight belong to 2DL5A and the remaining 13 belong to 2DL5B. Eight KIR2DL5A alleles encode only two distinct proteins (2DL5A*001 and 2DL5A*005).…”

Section: Discussionmentioning

confidence: 99%

“…Furthermore, eight Hispanic individuals carrying the KIR2DL5 gene were included in the KIR2DL5-sequencing analysis. The DNA samples from blood donors RR and WC in whom the KIR2DL5B*002 and *003 were originally isolated, 5,13 were included as controls for the direct sequencing method.…”

Section: Samplesmentioning

confidence: 99%

“…5 KIR2-DL5A is located in the telomeric half the KIR gene complex whereas the KIR2DL5B is located in the centromeric half. 10,13 Haplotypes carrying both 2DL5A and B have been described, and thus individuals homozygous for these haplotypes may carry four copies of KIR2DL5 sequences. 14 KIR2DL5 displays a variegated distribution on the surface of CD56 dim NK cells, whereas the surface expression of KIR2DL4 appears to be restricted to the minority subset of KIR neg CD56 bright NK cells.…”

Section: Introductionmentioning

confidence: 99%

“…7 Multiple sequences for both KIR2DL5A and KIR2DL5B loci have been characterized from individuals of different ethnic origins. 13 However, the nature of KIR2DL5 sequence polymorphism within distinct ethnic populations is not known. Here, we have developed a direct DNA sequencing method and characterized the KIR2DL5 gene polymorphism in 248 unrelated individuals carrying this gene from four distinct ethnic populations.…”

Section: Introductionmentioning

confidence: 99%

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KIR2DL5 alleles mark certain combination of activating KIR genes

Sharma

Spellman

et al. 2008

Genes Immun

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Killer cell Ig-like receptors (KIR) control the immune response of NK cells and some T cells to infections and tumors. KIR genes evolve rapidly and are variable between individuals in their number, type and sequence. Here, we determined the nature of KIR2DL5 gene polymorphism in four ethnic groups using direct DNA sequencing method. Nine new sequences were discovered. Within the panel of 248 KIR2DL5-positive individuals, 14 KIR2DL5-sequences differing in coding regions were observed. They differed at only seven amino acid positions, and such limited polymorphism is consistent with its conserved nature throughout the hominoid lineage. Ethnic deviation was seen in the distribution of KIR2DL5A, KIR2DL5B and their alleles. African Americans had more KIR2DL5 alleles than other populations indicating that more polymorphisms are yet to be discovered in Africans. Linkage between KIR2DL5-alleles and certain activating-KIR genes were observed, but frequency of these linked clusters differed substantially between populations. Consequently, KIR2DL5 alleles can be used as markers to predict the activating-KIR gene content. Typing system distinguishing A*001 and B*002 alleles can serve as a powerful screening test to assess the content of most variable activating-KIR genes that have been implicated in human disease and in the outcome of hematopoietic stem cell transplantation.

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Section: Discussionmentioning

confidence: 99%

Section: Samplesmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

KIR2DL5 alleles mark certain combination of activating KIR genes

Sharma

Spellman

et al. 2008

Genes Immun

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“…A recent mouse study suggests that activating receptor‐mediated signalling might regulate this process during NK cell development 145. Polymorphisms in the KIR promotors also impact KIR expression 142, 146, 147…”

Section: Kir Gene Expressionmentioning

confidence: 99%

Deciphering the killer‐cell immunoglobulin‐like receptor system at super‐resolution for natural killer and T‐cell biology

et al. 2016

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SummaryKiller‐cell immunoglobulin‐like receptors (KIRs) are components of two fundamental biological systems essential for human health and survival. First, they contribute to host immune responses, both innate and adaptive, through their expression by natural killer cells and T cells. Second, KIR play a key role in regulating placentation, and hence reproductive success. Analogous to the diversity of their human leucocyte antigen class I ligands, KIR are extremely polymorphic. In this review, we describe recent developments, fuelled by methodological advances, that are helping to decipher the KIR system in terms of haplotypes, polymorphisms, expression patterns and their ligand interactions. These developments are delivering deeper insight into the relevance of KIR in immune system function, evolution and disease.

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Recognition of HLA‐G by the NK cell receptor KIR2DL4 is not essential for human reproduction

et al. 2003

Self Cite

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A central issue of reproductive immunology in mammals is why a semi-allogeneic embryo is not rejected by the pregnant mother. This is particularly intriguing since, in different species, the early pregnant uterus is infiltrated by numerous maternal lymphocytes, predominantly NK cells. The human NK cell receptor KIR2DL4 has been implicated in the maternal tolerance to the embryo due to its recognition of HLA-G, a non-classical MHC molecule expressed preferentially in the placenta. Killer cell Ig-like receptors (KIR) are believed to participate in the natural immunity to infection and tumors, but KIR2DL4 has unique structural, functional and genetic features that could confer it a different role. However, we demonstrate here that the KIR2DL4:HLA-G interaction is not essential for human reproduction by showing that a multiparous woman lacks a KIR2DL4 gene.

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Gene Structure and Promoter Variation of Expressed and Nonexpressed Variants of the KIR2DL5 Gene

Cited by 85 publications

References 28 publications

KIR2DL5 alleles mark certain combination of activating KIR genes

KIR2DL5 alleles mark certain combination of activating KIR genes

Deciphering the killer‐cell immunoglobulin‐like receptor system at super‐resolution for natural killer and T‐cell biology

Recognition of HLA‐G by the NK cell receptor KIR2DL4 is not essential for human reproduction

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