Abstract
Mutations in the human CIAS1 (hCIAS1) gene have been identified in a continuum of inflammatory disorders including familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), and neonatal onset multisystem inflammatory disease (NOMID). CIAS1 codes for the protein Cryopyrin, which appears to play a role in innate immune function by regulating the production of proinflammatory cytokines. Human and mouse Cryopyrin are highly conserved and consist of three functional domains including a pyrin domain, an NACHT domain, and a leucine-rich repeat (LRR) domain that are characteristics of the NALP family of proteins. The pyrin and NACHT domains of Cryopyrin and other NALP proteins are highly conserved among primate and nonprimate mammals, suggesting purifying selection throughout mammalian evolution. Cryopyrin expression is also very similar in human and mouse with mouse CIAS1 mRNA expression found primarily in peripheral blood leukocytes consistent with the postulated inflammatory function. We also detected significant expression in mouse eye and skin tissue, which is consistent with symptoms observed in human Cryopyrin-associated diseases.
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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Amino Acid Sequence
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Animals
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Blotting, Northern
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Carrier Proteins / genetics*
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Cloning, Molecular
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DNA / chemistry
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DNA / genetics
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DNA, Complementary / chemistry
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DNA, Complementary / genetics
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Evolution, Molecular*
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Female
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Gene Expression Profiling*
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Genes / genetics
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Male
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Mice
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Mice, Inbred BALB C
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Mice, Inbred C57BL
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Molecular Sequence Data
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NLR Family, Pyrin Domain-Containing 3 Protein
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Phylogeny
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Primates / genetics
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RNA, Messenger / genetics
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RNA, Messenger / metabolism
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Sequence Alignment
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Sequence Analysis, DNA
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Sequence Homology, Amino Acid
Substances
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Carrier Proteins
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DNA, Complementary
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NLR Family, Pyrin Domain-Containing 3 Protein
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Nlrp3 protein, mouse
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RNA, Messenger
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DNA
Associated data
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GENBANK/AY337285
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GENBANK/AY337286
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GENBANK/AY337287
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GENBANK/AY337288
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GENBANK/AY337289
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