Article
Ancient selection for derived alleles at a GDF5 enhancer influencing human growth and osteoarthritis risk.
Nature genetics - 1 Aug 2017
Capellini Terence D, Chen Hao, Cao Jiaxue, Doxey Andrew C, Kiapour Ata M, Schoor Michael, Kingsley David M
Abstract excerpt
Variants in GDF5 are associated with human arthritis and decreased height, but the causal mutations are still unknown. We surveyed the Gdf5 locus for regulatory regions in transgenic mice and fine-mapped separate enhancers controlling expression in joints versus growing ends of long bones. A large downstream regulatory region contains a novel growth enhancer (GROW1), which is required for normal Gdf5 expression...
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