Article
Evolutionary history of copy-number-variable locus for the low-affinity Fcγ receptor: mutation rate, autoimmune disease, and the legacy of helminth infection.
American journal of human genetics - 8 Jun 2012
Machado Lee R, Hardwick Robert J, Bowdrey Jennifer, Bogle Helen, Knowles Timothy J, Sironi Manuela, Hollox Edward J
Abstract excerpt
Both sequence variation and copy-number variation (CNV) of the genes encoding receptors for immunoglobulin G (Fcγ receptors) have been genetically and functionally associated with a number of autoimmune diseases. However, the molecular nature and evolutionary context of this variation is unknown. Here, we describe the structure of the CNV, estimate its mutation rate and diversity, and place it in the context of...
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