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Isolation of the gene for murine glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1A
Glycogen storage disease (GSD) type 1a (von Gierke disease) is caused by a deficiency in glucose-6-phosphatase, the key enzyme in glucose homeostasis catalyzing the terminal step in gluconeogenesis and glycogenolysis. Despite its clinical importance, this membrane-bound enzyme has eluded molecular c...
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| Published in: | The Journal of biological chemistry 1993-10, Vol.268 (29), p.21482-21485 |
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| Main Authors: | , , , , , , |
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| Language: | English |
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| container_end_page | 21485 |
| container_issue | 29 |
| container_start_page | 21482 |
| container_title | The Journal of biological chemistry |
| container_volume | 268 |
| creator | Shelly, L L Lei, K J Pan, C J Sakata, S F Ruppert, S Schutz, G Chou, J Y |
| description | Glycogen storage disease (GSD) type 1a (von Gierke disease) is caused by a deficiency in glucose-6-phosphatase, the key enzyme
in glucose homeostasis catalyzing the terminal step in gluconeogenesis and glycogenolysis. Despite its clinical importance,
this membrane-bound enzyme has eluded molecular characterization. Here we report the cloning and characterization of a murine
glucose-6-phosphatase cDNA by screening a mouse liver cDNA library differentially with mRNA populations representing the normal
and the albino deletion mouse known to express markedly reduced glucose-6-phosphatase activity. Additionally, we identified
the gene that consists of 5 exons. Biochemical analyses indicate that the in vitro expressed enzyme is indistinguishable from
mouse liver microsomal glucose-6-phosphatase exhibiting essentially identical kinetic constants, latency, thermal lability,
and vanadate sensitivity. The characterization of the murine glucose-6-phosphatase gene opens the way for studying the molecular
basis of GSD type 1a in humans and its etiology in an animal model. |
| doi_str_mv | 10.1016/s0021-9258(20)80563-8 |
| format | article |
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in glucose homeostasis catalyzing the terminal step in gluconeogenesis and glycogenolysis. Despite its clinical importance,
this membrane-bound enzyme has eluded molecular characterization. Here we report the cloning and characterization of a murine
glucose-6-phosphatase cDNA by screening a mouse liver cDNA library differentially with mRNA populations representing the normal
and the albino deletion mouse known to express markedly reduced glucose-6-phosphatase activity. Additionally, we identified
the gene that consists of 5 exons. Biochemical analyses indicate that the in vitro expressed enzyme is indistinguishable from
mouse liver microsomal glucose-6-phosphatase exhibiting essentially identical kinetic constants, latency, thermal lability,
and vanadate sensitivity. The characterization of the murine glucose-6-phosphatase gene opens the way for studying the molecular
basis of GSD type 1a in humans and its etiology in an animal model.</description><identifier>ISSN: 0021-9258</identifier><identifier>EISSN: 1083-351X</identifier><identifier>DOI: 10.1016/s0021-9258(20)80563-8</identifier><identifier>PMID: 8407995</identifier><language>eng</language><publisher>United States: American Society for Biochemistry and Molecular Biology</publisher><subject>Amino Acid Sequence ; Animals ; Base Sequence ; Cells, Cultured ; DNA, Complementary ; Glucose-6-Phosphatase - genetics ; Glucose-6-Phosphatase - metabolism ; Glycogen Storage Disease Type I - enzymology ; Humans ; Hydrolysis ; Kinetics ; Mice ; Mice, Mutant Strains ; Microsomes, Liver - enzymology ; Molecular Sequence Data ; RNA, Messenger - metabolism</subject><ispartof>The Journal of biological chemistry, 1993-10, Vol.268 (29), p.21482-21485</ispartof><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c477t-6b6fc03f2ef5dc07a6be9f45b9249c4df78427a436b59db67f124b1703a7d5543</citedby><cites>FETCH-LOGICAL-c477t-6b6fc03f2ef5dc07a6be9f45b9249c4df78427a436b59db67f124b1703a7d5543</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>315,786,790,27957,27958</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/8407995$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Shelly, L L</creatorcontrib><creatorcontrib>Lei, K J</creatorcontrib><creatorcontrib>Pan, C J</creatorcontrib><creatorcontrib>Sakata, S F</creatorcontrib><creatorcontrib>Ruppert, S</creatorcontrib><creatorcontrib>Schutz, G</creatorcontrib><creatorcontrib>Chou, J Y</creatorcontrib><title>Isolation of the gene for murine glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1A</title><title>The Journal of biological chemistry</title><addtitle>J Biol Chem</addtitle><description>Glycogen storage disease (GSD) type 1a (von Gierke disease) is caused by a deficiency in glucose-6-phosphatase, the key enzyme
in glucose homeostasis catalyzing the terminal step in gluconeogenesis and glycogenolysis. Despite its clinical importance,
this membrane-bound enzyme has eluded molecular characterization. Here we report the cloning and characterization of a murine
glucose-6-phosphatase cDNA by screening a mouse liver cDNA library differentially with mRNA populations representing the normal
and the albino deletion mouse known to express markedly reduced glucose-6-phosphatase activity. Additionally, we identified
the gene that consists of 5 exons. Biochemical analyses indicate that the in vitro expressed enzyme is indistinguishable from
mouse liver microsomal glucose-6-phosphatase exhibiting essentially identical kinetic constants, latency, thermal lability,
and vanadate sensitivity. The characterization of the murine glucose-6-phosphatase gene opens the way for studying the molecular
basis of GSD type 1a in humans and its etiology in an animal model.</description><subject>Amino Acid Sequence</subject><subject>Animals</subject><subject>Base Sequence</subject><subject>Cells, Cultured</subject><subject>DNA, Complementary</subject><subject>Glucose-6-Phosphatase - genetics</subject><subject>Glucose-6-Phosphatase - metabolism</subject><subject>Glycogen Storage Disease Type I - enzymology</subject><subject>Humans</subject><subject>Hydrolysis</subject><subject>Kinetics</subject><subject>Mice</subject><subject>Mice, Mutant Strains</subject><subject>Microsomes, Liver - enzymology</subject><subject>Molecular Sequence Data</subject><subject>RNA, Messenger - metabolism</subject><issn>0021-9258</issn><issn>1083-351X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1993</creationdate><recordtype>article</recordtype><recordid>eNqFkc1q3DAUhUVpSaZpHyGgRSkN1Kkk68dahtC0gUAWTaE7IctXYwXbciWbMHn6ajJDttXmCu53zoVzEDqn5JISKr9lQhitNBPNF0YuGiJkXTVv0IaSpq5qQf-8RZtX5BS9z_mRlMc1PUEnDSdKa7FB822Og11CnHD0eOkBb2EC7GPC45pC-W6H1cUMlazmPua5t4vN8PUFhel5NwLuwAcXYFpwmAq-c7F44LzEZLdlGzIUBV52M2B69QG983bI8PE4z9Dvm-8P1z-ru_sft9dXd5XjSi2VbKV3pPYMvOgcUVa2oD0XrWZcO9551XCmLK9lK3TXSuUp4y1VpLaqE4LXZ-jzwXdO8e8KeTFjyA6GwU4Q12yULFkQSf8LUilVOcUKKA6gSzHnBN7MKYw27QwlZl-J-bXP2-zzNoyYl0pMU3TnxwNrO0L3qjp2UPafDvs-bPunkMC0IboeRsNkMdKGUd6w-h8gRZOK</recordid><startdate>19931015</startdate><enddate>19931015</enddate><creator>Shelly, L L</creator><creator>Lei, K J</creator><creator>Pan, C J</creator><creator>Sakata, S F</creator><creator>Ruppert, S</creator><creator>Schutz, G</creator><creator>Chou, J Y</creator><general>American Society for Biochemistry and Molecular Biology</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7TM</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>19931015</creationdate><title>Isolation of the gene for murine glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1A</title><author>Shelly, L L ; Lei, K J ; Pan, C J ; Sakata, S F ; Ruppert, S ; Schutz, G ; Chou, J Y</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c477t-6b6fc03f2ef5dc07a6be9f45b9249c4df78427a436b59db67f124b1703a7d5543</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1993</creationdate><topic>Amino Acid Sequence</topic><topic>Animals</topic><topic>Base Sequence</topic><topic>Cells, Cultured</topic><topic>DNA, Complementary</topic><topic>Glucose-6-Phosphatase - genetics</topic><topic>Glucose-6-Phosphatase - metabolism</topic><topic>Glycogen Storage Disease Type I - enzymology</topic><topic>Humans</topic><topic>Hydrolysis</topic><topic>Kinetics</topic><topic>Mice</topic><topic>Mice, Mutant Strains</topic><topic>Microsomes, Liver - enzymology</topic><topic>Molecular Sequence Data</topic><topic>RNA, Messenger - metabolism</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Shelly, L L</creatorcontrib><creatorcontrib>Lei, K J</creatorcontrib><creatorcontrib>Pan, C J</creatorcontrib><creatorcontrib>Sakata, S F</creatorcontrib><creatorcontrib>Ruppert, S</creatorcontrib><creatorcontrib>Schutz, G</creatorcontrib><creatorcontrib>Chou, J Y</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Nucleic Acids Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>The Journal of biological chemistry</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Shelly, L L</au><au>Lei, K J</au><au>Pan, C J</au><au>Sakata, S F</au><au>Ruppert, S</au><au>Schutz, G</au><au>Chou, J Y</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Isolation of the gene for murine glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1A</atitle><jtitle>The Journal of biological chemistry</jtitle><addtitle>J Biol Chem</addtitle><date>1993-10-15</date><risdate>1993</risdate><volume>268</volume><issue>29</issue><spage>21482</spage><epage>21485</epage><pages>21482-21485</pages><issn>0021-9258</issn><eissn>1083-351X</eissn><notes>ObjectType-Article-2</notes><notes>SourceType-Scholarly Journals-1</notes><notes>ObjectType-Feature-1</notes><notes>content type line 23</notes><notes>ObjectType-Article-1</notes><notes>ObjectType-Feature-2</notes><abstract>Glycogen storage disease (GSD) type 1a (von Gierke disease) is caused by a deficiency in glucose-6-phosphatase, the key enzyme
in glucose homeostasis catalyzing the terminal step in gluconeogenesis and glycogenolysis. Despite its clinical importance,
this membrane-bound enzyme has eluded molecular characterization. Here we report the cloning and characterization of a murine
glucose-6-phosphatase cDNA by screening a mouse liver cDNA library differentially with mRNA populations representing the normal
and the albino deletion mouse known to express markedly reduced glucose-6-phosphatase activity. Additionally, we identified
the gene that consists of 5 exons. Biochemical analyses indicate that the in vitro expressed enzyme is indistinguishable from
mouse liver microsomal glucose-6-phosphatase exhibiting essentially identical kinetic constants, latency, thermal lability,
and vanadate sensitivity. The characterization of the murine glucose-6-phosphatase gene opens the way for studying the molecular
basis of GSD type 1a in humans and its etiology in an animal model.</abstract><cop>United States</cop><pub>American Society for Biochemistry and Molecular Biology</pub><pmid>8407995</pmid><doi>10.1016/s0021-9258(20)80563-8</doi><tpages>4</tpages><oa>free_for_read</oa></addata></record> |
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| ispartof | The Journal of biological chemistry, 1993-10, Vol.268 (29), p.21482-21485 |
| issn | 0021-9258 1083-351X |
| language | eng |
| recordid | cdi_proquest_miscellaneous_76004061 |
| source | BACON - Elsevier - GLOBAL_SCIENCEDIRECT-OPENACCESS |
| subjects | Amino Acid Sequence Animals Base Sequence Cells, Cultured DNA, Complementary Glucose-6-Phosphatase - genetics Glucose-6-Phosphatase - metabolism Glycogen Storage Disease Type I - enzymology Humans Hydrolysis Kinetics Mice Mice, Mutant Strains Microsomes, Liver - enzymology Molecular Sequence Data RNA, Messenger - metabolism |
| title | Isolation of the gene for murine glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1A |
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