Ontology highlight
ABSTRACT:
SUBMITTER: Capellini TD
PROVIDER: S-EPMC6556117 | biostudies-literature | 2017 Aug
REPOSITORIES: biostudies-literature
Capellini Terence D TD Chen Hao H Cao Jiaxue J Doxey Andrew C AC Kiapour Ata M AM Schoor Michael M Kingsley David M DM
Nature genetics 20170703 8
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 at ends of developing bones and for normal bone lengths in vivo. Human GROW1 contains ...[more]