NDLI: Diversity of the human LILRB3/A6 locus encoding a myeloid inhibitory and activating receptor pair

Content Provider	Springer Nature Link
Author	Bashirova, Arman A. Apps, Richard Vince, Nicolas Mochalova, Yelizaveta Yu, Xu G. Carrington, Mary
Copyright Year	2013
Abstract	Leukocyte immunoglobulin-like receptor (LILR)B3 and LILRA6 represent a pair of inhibitory/activating receptors with identical extracellular domains and unknown ligands. LILRB3 can mediate inhibitory signaling via immunoreceptor tyrosine-based inhibition motifs in its cytoplasmic tail whereas LILRA6 can signal through association with an activating adaptor molecule, FcRγ, which bears a cytoplasmic tail with an immunoreceptor tyrosine-based activation motif. The receptors are encoded by two highly polymorphic neighboring genes within the leukocyte receptor complex on human chromosome 19. Here, we report that the two genes display similar levels of single nucleotide polymorphisms with the majority of polymorphic sites being identical. In addition, the LILRA6 gene exhibits copy number variation (CNV) whereas LILRB3 does not. A screen of healthy Caucasians indicated that 32 % of the subjects possessed more than two copies of LILRA6, whereas 4 % have only one copy of the gene per diploid genome. Analysis of mRNA expression in the major fractions of PBMCs showed that LILRA6 is primarily expressed in monocytes, similarly to LILRB3, and its expression level correlates with copy number of the gene. We suggest that the LILRA6 CNV may influence the level of the activating receptor on the cell surface, potentially affecting signaling upon LILRB3/A6 ligation.
Starting Page	1
Ending Page	8
Page Count	8
File Format	PDF
ISSN	00937711
Journal	Immunogenetics
Volume Number	66
Issue Number	1
e-ISSN	14321211
Language	English
Publisher	Springer Berlin Heidelberg
Publisher Date	2013-10-06
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Myeloid receptor LILR Copy number variation Immunology Human Genetics Gene Function Cell Biology Allergology
Content Type	Text
Resource Type	Article
Subject	Genetics Immunology

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