Publication Date:
2000-07-15
Description:
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.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Ho, A M -- Johnson, M D -- Kingsley, D M -- 5T32GM07365/GM/NIGMS NIH HHS/ -- New York, N.Y. -- Science. 2000 Jul 14;289(5477):265-70.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Developmental Biology and Howard Hughes Medical Institute, Beckman Center B300, Stanford University School of Medicine, Stanford, CA 94305-5327, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/10894769" target="_blank"〉PubMed〈/a〉
Keywords:
Animals
;
Arthritis/*genetics/metabolism/pathology
;
Base Sequence
;
Biological Transport
;
COS Cells
;
Calcinosis/*genetics
;
Chromosome Mapping
;
Cloning, Molecular
;
Dna
;
Diphosphates/*metabolism
;
Durapatite/metabolism
;
Gene Expression
;
Genetic Complementation Test
;
Humans
;
Membrane Proteins/*genetics/metabolism/*physiology
;
Mice
;
Mice, Transgenic
;
Molecular Sequence Data
;
Mutation
;
Phenotype
;
Phosphate Transport Proteins
;
Physical Chromosome Mapping
;
Sequence Homology, Nucleic Acid
;
Tissue Distribution
Print ISSN:
0036-8075
Electronic ISSN:
1095-9203
Topics:
Biology
,
Chemistry and Pharmacology
,
Computer Science
,
Medicine
,
Natural Sciences in General
,
Physics
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