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 pyrophosphate levels as a possible mechanism regulating tissue calcification and susceptibility to arthritis in higher animals.
Publication types
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Animals
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Arthritis / genetics*
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Arthritis / metabolism
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Arthritis / pathology
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Base Sequence
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Biological Transport
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COS Cells
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Calcinosis / genetics*
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Chromosome Mapping
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Cloning, Molecular
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DNA
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Diphosphates / metabolism*
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Durapatite / metabolism
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Gene Expression
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Genetic Complementation Test
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Humans
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Membrane Proteins / genetics*
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Membrane Proteins / metabolism
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Membrane Proteins / physiology*
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Mice
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Mice, Transgenic
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Molecular Sequence Data
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Mutation
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Phenotype
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Phosphate Transport Proteins
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Physical Chromosome Mapping
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Sequence Homology, Nucleic Acid
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Tissue Distribution
Substances
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ANKH protein, human
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Diphosphates
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Membrane Proteins
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Phosphate Transport Proteins
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ank protein, mouse
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DNA
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Durapatite