A 13 base pair deletion in exon 1 of HPRTIllinois forms a functional GUG initiation codon
More than 50 mutations in the human hypoxanthine-guanine phosphoribosyltransferase (HPRT) locus have been described, yet only 2 alter the AUG initiation codon. One, variant HPRT1151, results in Lesch-Nyhan syndrome (LNS), and the other, HPRTIllinois, results in partial HPRT deficiency. Although prev...
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| Veröffentlicht in: | Human genetics 1994-03, Vol.93 (3), p.300-304 |
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| container_title | Human genetics |
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| creator | DAVIDSON, B. L GOLOVOY, N ROESSLER, B. J |
| description | More than 50 mutations in the human hypoxanthine-guanine phosphoribosyltransferase (HPRT) locus have been described, yet only 2 alter the AUG initiation codon. One, variant HPRT1151, results in Lesch-Nyhan syndrome (LNS), and the other, HPRTIllinois, results in partial HPRT deficiency. Although previously undetectable, we used a sensitive gel assay to demonstrate that HPRTIllinois is not only active, but has a native Mr indistinguishable from normal. Confirmatory evidence of activity and native Mr is demonstrated following transfection of HPRT cells with expression plasmids containing cDNA sequences representing HPRTIllinois. These data provide support for the hypothesis that patient RT, or variant HPRTIllinois, is spared manifestations of the LNS as a result of translation at the newly formed GUG initiation codon. |
| doi_str_mv | 10.1007/BF00212027 |
| format | Article |
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These data provide support for the hypothesis that patient RT, or variant HPRTIllinois, is spared manifestations of the LNS as a result of translation at the newly formed GUG initiation codon.</description><identifier>ISSN: 0340-6717</identifier><identifier>EISSN: 1432-1203</identifier><identifier>DOI: 10.1007/BF00212027</identifier><identifier>PMID: 8125482</identifier><identifier>CODEN: HUGEDQ</identifier><language>eng</language><publisher>Heidelberg: Springer</publisher><subject>Base Composition ; Base Sequence ; Biological and medical sciences ; Cell Line, Transformed ; Codon ; DNA ; Exons ; Humans ; Hypoxanthine Phosphoribosyltransferase - deficiency ; Hypoxanthine Phosphoribosyltransferase - genetics ; Lesch-Nyhan Syndrome - enzymology ; Lesch-Nyhan Syndrome - genetics ; Medical sciences ; Metabolic diseases ; Molecular Sequence Data ; Other metabolic disorders ; Protein Biosynthesis ; Purines and pyrimidines (gout, hyperuricemia...) ; Sequence Deletion ; Syndrome ; Transfection</subject><ispartof>Human genetics, 1994-03, Vol.93 (3), p.300-304</ispartof><rights>1994 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c226t-4ba014989aeaccae992a06d8640acdd8dd2c84d4a6e63d8faa8e9cd55f537acd3</citedby><cites>FETCH-LOGICAL-c226t-4ba014989aeaccae992a06d8640acdd8dd2c84d4a6e63d8faa8e9cd55f537acd3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27901,27902</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=3956509$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/8125482$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>DAVIDSON, B. L</creatorcontrib><creatorcontrib>GOLOVOY, N</creatorcontrib><creatorcontrib>ROESSLER, B. J</creatorcontrib><title>A 13 base pair deletion in exon 1 of HPRTIllinois forms a functional GUG initiation codon</title><title>Human genetics</title><addtitle>Hum Genet</addtitle><description>More than 50 mutations in the human hypoxanthine-guanine phosphoribosyltransferase (HPRT) locus have been described, yet only 2 alter the AUG initiation codon. One, variant HPRT1151, results in Lesch-Nyhan syndrome (LNS), and the other, HPRTIllinois, results in partial HPRT deficiency. Although previously undetectable, we used a sensitive gel assay to demonstrate that HPRTIllinois is not only active, but has a native Mr indistinguishable from normal. Confirmatory evidence of activity and native Mr is demonstrated following transfection of HPRT cells with expression plasmids containing cDNA sequences representing HPRTIllinois. These data provide support for the hypothesis that patient RT, or variant HPRTIllinois, is spared manifestations of the LNS as a result of translation at the newly formed GUG initiation codon.</description><subject>Base Composition</subject><subject>Base Sequence</subject><subject>Biological and medical sciences</subject><subject>Cell Line, Transformed</subject><subject>Codon</subject><subject>DNA</subject><subject>Exons</subject><subject>Humans</subject><subject>Hypoxanthine Phosphoribosyltransferase - deficiency</subject><subject>Hypoxanthine Phosphoribosyltransferase - genetics</subject><subject>Lesch-Nyhan Syndrome - enzymology</subject><subject>Lesch-Nyhan Syndrome - genetics</subject><subject>Medical sciences</subject><subject>Metabolic diseases</subject><subject>Molecular Sequence Data</subject><subject>Other metabolic disorders</subject><subject>Protein Biosynthesis</subject><subject>Purines and pyrimidines (gout, hyperuricemia...)</subject><subject>Sequence Deletion</subject><subject>Syndrome</subject><subject>Transfection</subject><issn>0340-6717</issn><issn>1432-1203</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1994</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpFkE1Lw0AYhBdRaq1evAt7EA9CdD-T3aMW-wEFRdqDp_B2dwMrSbZmE9B_b2pDPQ3DPDOHQeiakgdKSPb4PCOEUUZYdoLGVHCW9IafojHhgiRpRrNzdBHjJyFUaiZHaKQok0KxMfp4wpTjLUSHd-AbbF3pWh9q7GvsvnulOBR48fa-Xpalr4OPuAhNFTHgoqvNHoUSzzfzvuBbD39dE2yoL9FZAWV0V4NO0Gb2sp4uktXrfDl9WiWGsbRNxBYIFVppcGAMOK0ZkNSqVBAw1iprmVHCCkhdyq0qAJTTxkpZSJ71BJ-gu8PurglfnYttXvloXFlC7UIX8yzlSghBevD-AJomxNi4It81voLmJ6ck3_-Y___YwzfDaretnD2iw3F9fjvkEA2URQO18fGIcS1TSTT_BawSeOs</recordid><startdate>199403</startdate><enddate>199403</enddate><creator>DAVIDSON, B. L</creator><creator>GOLOVOY, N</creator><creator>ROESSLER, B. J</creator><general>Springer</general><scope>IQODW</scope><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>7X8</scope></search><sort><creationdate>199403</creationdate><title>A 13 base pair deletion in exon 1 of HPRTIllinois forms a functional GUG initiation codon</title><author>DAVIDSON, B. L ; GOLOVOY, N ; ROESSLER, B. J</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c226t-4ba014989aeaccae992a06d8640acdd8dd2c84d4a6e63d8faa8e9cd55f537acd3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1994</creationdate><topic>Base Composition</topic><topic>Base Sequence</topic><topic>Biological and medical sciences</topic><topic>Cell Line, Transformed</topic><topic>Codon</topic><topic>DNA</topic><topic>Exons</topic><topic>Humans</topic><topic>Hypoxanthine Phosphoribosyltransferase - deficiency</topic><topic>Hypoxanthine Phosphoribosyltransferase - genetics</topic><topic>Lesch-Nyhan Syndrome - enzymology</topic><topic>Lesch-Nyhan Syndrome - genetics</topic><topic>Medical sciences</topic><topic>Metabolic diseases</topic><topic>Molecular Sequence Data</topic><topic>Other metabolic disorders</topic><topic>Protein Biosynthesis</topic><topic>Purines and pyrimidines (gout, hyperuricemia...)</topic><topic>Sequence Deletion</topic><topic>Syndrome</topic><topic>Transfection</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>DAVIDSON, B. L</creatorcontrib><creatorcontrib>GOLOVOY, N</creatorcontrib><creatorcontrib>ROESSLER, B. J</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Human genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>DAVIDSON, B. L</au><au>GOLOVOY, N</au><au>ROESSLER, B. J</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A 13 base pair deletion in exon 1 of HPRTIllinois forms a functional GUG initiation codon</atitle><jtitle>Human genetics</jtitle><addtitle>Hum Genet</addtitle><date>1994-03</date><risdate>1994</risdate><volume>93</volume><issue>3</issue><spage>300</spage><epage>304</epage><pages>300-304</pages><issn>0340-6717</issn><eissn>1432-1203</eissn><coden>HUGEDQ</coden><abstract>More than 50 mutations in the human hypoxanthine-guanine phosphoribosyltransferase (HPRT) locus have been described, yet only 2 alter the AUG initiation codon. One, variant HPRT1151, results in Lesch-Nyhan syndrome (LNS), and the other, HPRTIllinois, results in partial HPRT deficiency. Although previously undetectable, we used a sensitive gel assay to demonstrate that HPRTIllinois is not only active, but has a native Mr indistinguishable from normal. Confirmatory evidence of activity and native Mr is demonstrated following transfection of HPRT cells with expression plasmids containing cDNA sequences representing HPRTIllinois. These data provide support for the hypothesis that patient RT, or variant HPRTIllinois, is spared manifestations of the LNS as a result of translation at the newly formed GUG initiation codon.</abstract><cop>Heidelberg</cop><cop>Berlin</cop><cop>New York, NY</cop><pub>Springer</pub><pmid>8125482</pmid><doi>10.1007/BF00212027</doi><tpages>5</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0340-6717 |
| ispartof | Human genetics, 1994-03, Vol.93 (3), p.300-304 |
| issn | 0340-6717 1432-1203 |
| language | eng |
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| source | MEDLINE; SpringerLink Journals |
| subjects | Base Composition Base Sequence Biological and medical sciences Cell Line, Transformed Codon DNA Exons Humans Hypoxanthine Phosphoribosyltransferase - deficiency Hypoxanthine Phosphoribosyltransferase - genetics Lesch-Nyhan Syndrome - enzymology Lesch-Nyhan Syndrome - genetics Medical sciences Metabolic diseases Molecular Sequence Data Other metabolic disorders Protein Biosynthesis Purines and pyrimidines (gout, hyperuricemia...) Sequence Deletion Syndrome Transfection |
| title | A 13 base pair deletion in exon 1 of HPRTIllinois forms a functional GUG initiation codon |
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