Role of the mouse ank gene in control of tissue calcification and arthritis.
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.
Ho
A M
AM
Department of Developmental Biology and Howard Hughes Medical Institute, Beckman Center B300, Stanford University School of Medicine, Stanford, CA 94305-5327, USA.
Johnson
M D
MD
Kingsley
D M
DM
D000818:Animals; D001168:Arthritis / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D001483:Base Sequence; D001692:Biological Transport; D019556:COS Cells; D002114:Calcinosis / Q000235:genetics*; D002874:Chromosome Mapping; D003001:Cloning, Molecular; D004247:DNA; D011756:Diphosphates / Q000378:metabolism*; D017886:Durapatite / Q000378:metabolism; D015870:Gene Expression; D005816:Genetic Complementation Test; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics* / Q000378:metabolism / Q000502:physiology*; D051379:Mice; D008822:Mice, Transgenic; D008969:Molecular Sequence Data; D009154:Mutation; D010641:Phenotype; D028061:Phosphate Transport Proteins; D020161:Physical Chromosome Mapping; D012689:Sequence Homology, Nucleic Acid; D014018:Tissue Distribution
C498770:ANKH protein, human; D011756:Diphosphates; D008565:Membrane Proteins; D028061:Phosphate Transport Proteins; C410982:ank protein, mouse; D004247:DNA; D017886:Durapatite