Role of the mouse ank gene in control of tissue calcification and arthritis.

Journal:

Science 2000 Jul

Authors:

Ho AM, Johnson MD, Kingsley DM

Abstract

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 pyrophosp
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hate levels as a possible mechanism regulating tissue calcification and susceptibility to arthritis in higher animals.[less]

Mesh Headings:

Animals, Arthritis, Base Sequence, Biological Transport, COS Cells, Calcinosis, Chromosome Mapping, Cloning, Molecular, DNA, Diphosphates, Durapatite, Gene Expression, Genetic Complementation Test, Humans, Membrane Proteins, Mice, Mice, Transgenic, Molecular Sequence Data, Mutation, Phenotype, Phosphate Transport Proteins, Physical Chromosome Mapping, Sequence Homology, Nucleic Acid, Tissue Distribution