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The influence of variation at the killer cell immunoglobulin-like receptor gene complex on human disease

Published on September 23, 2009 Updated on August 31, 2021   26 min

A selection of talks on Cell Biology

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0:00
Good afternoon. I'm Mary Carrington and I will present a talk describing the influence of variation at the killer cell immunoglobulin-like receptor gene complex on human disease.
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Natural killer cells express killer cell immunoglobulin-like receptors or KIR on their cell surface that can confer either activating or inhibitory signals to the NK cell. Inhibitory KIR recognize specific allotypes of HLA class I on potential targets, and if these ligands are present on a target cell, the inhibitory KIR will send a signal not to kill that target because it is normal in terms of HLA class I expression. Some virally infected cells and some tumor cells down-regulate HLA class I in order to escape cytotoxic T cell recognition. In this case, the inhibitory KIR will not see its ligand in the normal context, and an activating receptor, which can be an activating KIR, can now send a signal to kill that target as it is aberrant in terms of class I expression.
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The nomenclature for the KIR genes and molecules is based on the number of extracellular domains, termed 2D or 3D, and whether the molecule has a long or short cytoplasmic tail. On the far left are three domain long-tailed KIR termed KIR 3DL. On the far right is a three domain short-tailed KIR termed KIR 3DS. In general, the long-tailed KIR are inhibitory and the short-tailed KIR are activating. The genes encoding ligands for KIR are the HLA class I genes which map to the MHC,
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The influence of variation at the killer cell immunoglobulin-like receptor gene complex on human disease

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