Loss and gain of natural killer cell receptor function in an African hunter-gatherer population

The genes that control the response of the human immune system vary enormously between individuals. Understanding the evolution of these genetic differences and how they individualize immune responses is central to understanding how the immune system works in health and disease. In this regard, the KhoeSan of southern Africa are particularly informative because they are genetically diverse, divergent from other modern human populations and have been subject to unique demographic history. In the KhoeSan population, we studied variable genes that control natural killer cell function. We identified two recently evolved, novel gene variants that have unusual function; one completely changed its ligand specificity and the other lost its capacity for signal transduction.

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