Science · 2000 · 641 citations · 34 references
MechanobiologyMusculoskeletal ResearchDevelopmental BiologySignal TransductionBone Morphogenic ProteinGeneticsTissue CalcificationMouse Progressive AnkylosisOsteoarthritisBone MetabolismOsteocalcinGene ExpressionMedicineCell BiologyCell SignalingCellular PhysiologyMultipass Transmembrane ProteinGene Function
Mutation at the mouse progressive ankylosis (ank) locus causes a generalized, progressive form of arthritis accompanied by mineral deposition, formation of bony outgrowths, and joint destruction. Here, we show that the ank locus encodes a multipass transmembrane protein (ANK) that is expressed in joints and other tissues and controls pyrophosphate levels in cultured cells. A highly conserved gene is present in humans and other vertebrates. These results identify ANK-mediated control of pyrophosphate levels as a possible mechanism regulating tissue calcification and susceptibility to arthritis in higher animals.
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A Physical Map of 30,000 Human Genes
Panos Deloukas, Gregory D. Schuler, Gàbor Gyapay et al. · Science · 1998 · 714 citations
Genetic influences on osteoarthritis in women: a twin study
Tim D. Spector, F. Cicuttini, John Loughlin et al. · BMJ · 1996 · 695 citations · Full text