Molecular characterization of galactosemia (Type 1)mutations in Japanese
We characterized two novel mutations of the galactose‐1‐phosphate uridyltransferase (GALT) gene intwo Japanese patients with GALT deficiency and identified N314D and R333W mutations, previouslyfound in Caucasians. One novel missense mutation was an G‐to‐A transition in exon 8, resulting in thesubsti...
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Veröffentlicht in: | Human mutation 1995, Vol.6 (1), p.36-43 |
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creator | Ashino, Jiro Okano, Yoshiyuki Suyama, Itsuzin Yamazaki, Takeshi Yoshino, Makoto Furuyama, Jun-Ichi Lin, Hsien-Chin Reichardt, Juergen K. V. Isshiki, Gen |
description | We characterized two novel mutations of the galactose‐1‐phosphate uridyltransferase (GALT) gene intwo Japanese patients with GALT deficiency and identified N314D and R333W mutations, previouslyfound in Caucasians. One novel missense mutation was an G‐to‐A transition in exon 8, resulting in thesubstitution of arginine by histidine at the codon 231 (R231H). GALT activity of the R231H mutantconstruct was reduced to 15% of normal controls in a COS cell expression system. The other was asplicing mutation, an A‐to‐G transition at the 38th nucleotide in exon 3 (318A→G), resulting in a38‐bp deletion in the GALT cDNA by activating a cryptic splice acceptor site. In seven Japanesefamilies (14 alleles for classic form and one allele for Duarte variant) with GALT deficiency, the R231H and 318A→G mutations were found only on both alleles of the proband. The N314D and R333W mutations were found on one allele each. The Q188R was prevalent in the United States butnot in Japanese patients. The N314D mutation was associated with the Duarte variant in Japanesepersons, as well as in the United States. We speculate that classic galactosemia mutations appear todiffer between Japanese and Caucasian patients. Our limited data set on galactosemia mutations in Japanese suggests that the N314D GALT mutation encoding the Duarte variant arose before Asianand Caucasian people diverged and that classic galactosemia mutations arose and/or accumulated afterthe divergence of Asian and Caucasian populations. © 1995 Wiley‐Liss, Inc. |
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V. ; Isshiki, Gen</creator><creatorcontrib>Ashino, Jiro ; Okano, Yoshiyuki ; Suyama, Itsuzin ; Yamazaki, Takeshi ; Yoshino, Makoto ; Furuyama, Jun-Ichi ; Lin, Hsien-Chin ; Reichardt, Juergen K. V. ; Isshiki, Gen</creatorcontrib><description>We characterized two novel mutations of the galactose‐1‐phosphate uridyltransferase (GALT) gene intwo Japanese patients with GALT deficiency and identified N314D and R333W mutations, previouslyfound in Caucasians. One novel missense mutation was an G‐to‐A transition in exon 8, resulting in thesubstitution of arginine by histidine at the codon 231 (R231H). GALT activity of the R231H mutantconstruct was reduced to 15% of normal controls in a COS cell expression system. The other was asplicing mutation, an A‐to‐G transition at the 38th nucleotide in exon 3 (318A→G), resulting in a38‐bp deletion in the GALT cDNA by activating a cryptic splice acceptor site. In seven Japanesefamilies (14 alleles for classic form and one allele for Duarte variant) with GALT deficiency, the R231H and 318A→G mutations were found only on both alleles of the proband. The N314D and R333W mutations were found on one allele each. The Q188R was prevalent in the United States butnot in Japanese patients. The N314D mutation was associated with the Duarte variant in Japanesepersons, as well as in the United States. We speculate that classic galactosemia mutations appear todiffer between Japanese and Caucasian patients. Our limited data set on galactosemia mutations in Japanese suggests that the N314D GALT mutation encoding the Duarte variant arose before Asianand Caucasian people diverged and that classic galactosemia mutations arose and/or accumulated afterthe divergence of Asian and Caucasian populations. © 1995 Wiley‐Liss, Inc.</description><identifier>ISSN: 1059-7794</identifier><identifier>EISSN: 1098-1004</identifier><identifier>DOI: 10.1002/humu.1380060108</identifier><identifier>PMID: 7550229</identifier><language>eng</language><publisher>New York: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>Amino Acid Sequence ; Base Sequence ; Chromosome Mapping ; COS cell expression system ; DNA Mutational Analysis ; Female ; galactose-1-phosphate uridylyltransferase ; galactosemia ; Galactosemias - genetics ; GALT ; GALT gene ; Humans ; Infant, Newborn ; Japan ; Male ; man ; missense mutant ; Missense mutations ; Molecular Sequence Data ; mutation ; Polymerase Chain Reaction ; splicing ; Splicing mutation ; UTP-Hexose-1-Phosphate Uridylyltransferase - deficiency ; UTP-Hexose-1-Phosphate Uridylyltransferase - genetics</subject><ispartof>Human mutation, 1995, Vol.6 (1), p.36-43</ispartof><rights>Copyright © 1995 Wiley‐Liss, Inc., A Wiley Company</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c5498-d32aedcd3f337473c8d01a4b17419f7e9147db914f6e510eb6ab6404ba8219aa3</citedby><cites>FETCH-LOGICAL-c5498-d32aedcd3f337473c8d01a4b17419f7e9147db914f6e510eb6ab6404ba8219aa3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fhumu.1380060108$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fhumu.1380060108$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1417,4024,27923,27924,27925,45574,45575</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/7550229$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Ashino, Jiro</creatorcontrib><creatorcontrib>Okano, Yoshiyuki</creatorcontrib><creatorcontrib>Suyama, Itsuzin</creatorcontrib><creatorcontrib>Yamazaki, Takeshi</creatorcontrib><creatorcontrib>Yoshino, Makoto</creatorcontrib><creatorcontrib>Furuyama, Jun-Ichi</creatorcontrib><creatorcontrib>Lin, Hsien-Chin</creatorcontrib><creatorcontrib>Reichardt, Juergen K. V.</creatorcontrib><creatorcontrib>Isshiki, Gen</creatorcontrib><title>Molecular characterization of galactosemia (Type 1)mutations in Japanese</title><title>Human mutation</title><addtitle>Hum. Mutat</addtitle><description>We characterized two novel mutations of the galactose‐1‐phosphate uridyltransferase (GALT) gene intwo Japanese patients with GALT deficiency and identified N314D and R333W mutations, previouslyfound in Caucasians. One novel missense mutation was an G‐to‐A transition in exon 8, resulting in thesubstitution of arginine by histidine at the codon 231 (R231H). GALT activity of the R231H mutantconstruct was reduced to 15% of normal controls in a COS cell expression system. The other was asplicing mutation, an A‐to‐G transition at the 38th nucleotide in exon 3 (318A→G), resulting in a38‐bp deletion in the GALT cDNA by activating a cryptic splice acceptor site. In seven Japanesefamilies (14 alleles for classic form and one allele for Duarte variant) with GALT deficiency, the R231H and 318A→G mutations were found only on both alleles of the proband. The N314D and R333W mutations were found on one allele each. The Q188R was prevalent in the United States butnot in Japanese patients. The N314D mutation was associated with the Duarte variant in Japanesepersons, as well as in the United States. We speculate that classic galactosemia mutations appear todiffer between Japanese and Caucasian patients. Our limited data set on galactosemia mutations in Japanese suggests that the N314D GALT mutation encoding the Duarte variant arose before Asianand Caucasian people diverged and that classic galactosemia mutations arose and/or accumulated afterthe divergence of Asian and Caucasian populations. © 1995 Wiley‐Liss, Inc.</description><subject>Amino Acid Sequence</subject><subject>Base Sequence</subject><subject>Chromosome Mapping</subject><subject>COS cell expression system</subject><subject>DNA Mutational Analysis</subject><subject>Female</subject><subject>galactose-1-phosphate uridylyltransferase</subject><subject>galactosemia</subject><subject>Galactosemias - genetics</subject><subject>GALT</subject><subject>GALT gene</subject><subject>Humans</subject><subject>Infant, Newborn</subject><subject>Japan</subject><subject>Male</subject><subject>man</subject><subject>missense mutant</subject><subject>Missense mutations</subject><subject>Molecular Sequence Data</subject><subject>mutation</subject><subject>Polymerase Chain Reaction</subject><subject>splicing</subject><subject>Splicing mutation</subject><subject>UTP-Hexose-1-Phosphate Uridylyltransferase - deficiency</subject><subject>UTP-Hexose-1-Phosphate Uridylyltransferase - genetics</subject><issn>1059-7794</issn><issn>1098-1004</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1995</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkM1P20AQxVcViNK0556QfELlYJj1fqunCgEBEXpJ1ONqbI_BrR2HXVuQ_vV1mgjEicvsaN_vPY0eY185nHKA7OxhaIdTLiyABg72Azvk4Gw6anJvsyuXGuPkR_Ypxt8AYJUSB-zAKAVZ5g7ZdNY1VAwNhqR4wIBFT6H-i33dLZOuSu6xGb-6SG2Nybf5ekUJP2mH_j8Qk3qZ3OAKlxTpM9uvsIn0ZfdO2OLyYn4-TW9_Xl2f_7hNCyXHw0qRIZVFKSohjDSisCVwlDk3krvKkOPSlPk4K02KA-Uacy1B5mgz7hDFhB1vc1ehexwo9r6tY0FNM17RDdEbo6V2InsX5Noq0NaN4NkWLEIXY6DKr0LdYlh7Dn5Tst-U7F9LHh1Hu-ghb6l84Xetjvr3rf5UN7R-L85PF7PFm_R0665jT88vbgx_vDbCKP_r7srPp5dWOzn3UvwDRrGYSw</recordid><startdate>1995</startdate><enddate>1995</enddate><creator>Ashino, Jiro</creator><creator>Okano, Yoshiyuki</creator><creator>Suyama, Itsuzin</creator><creator>Yamazaki, Takeshi</creator><creator>Yoshino, Makoto</creator><creator>Furuyama, Jun-Ichi</creator><creator>Lin, Hsien-Chin</creator><creator>Reichardt, Juergen K. V.</creator><creator>Isshiki, Gen</creator><general>Wiley Subscription Services, Inc., A Wiley Company</general><scope>BSCLL</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>7T3</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>7X8</scope></search><sort><creationdate>1995</creationdate><title>Molecular characterization of galactosemia (Type 1)mutations in Japanese</title><author>Ashino, Jiro ; Okano, Yoshiyuki ; Suyama, Itsuzin ; Yamazaki, Takeshi ; Yoshino, Makoto ; Furuyama, Jun-Ichi ; Lin, Hsien-Chin ; Reichardt, Juergen K. V. ; Isshiki, Gen</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c5498-d32aedcd3f337473c8d01a4b17419f7e9147db914f6e510eb6ab6404ba8219aa3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1995</creationdate><topic>Amino Acid Sequence</topic><topic>Base Sequence</topic><topic>Chromosome Mapping</topic><topic>COS cell expression system</topic><topic>DNA Mutational Analysis</topic><topic>Female</topic><topic>galactose-1-phosphate uridylyltransferase</topic><topic>galactosemia</topic><topic>Galactosemias - genetics</topic><topic>GALT</topic><topic>GALT gene</topic><topic>Humans</topic><topic>Infant, Newborn</topic><topic>Japan</topic><topic>Male</topic><topic>man</topic><topic>missense mutant</topic><topic>Missense mutations</topic><topic>Molecular Sequence Data</topic><topic>mutation</topic><topic>Polymerase Chain Reaction</topic><topic>splicing</topic><topic>Splicing mutation</topic><topic>UTP-Hexose-1-Phosphate Uridylyltransferase - deficiency</topic><topic>UTP-Hexose-1-Phosphate Uridylyltransferase - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Ashino, Jiro</creatorcontrib><creatorcontrib>Okano, Yoshiyuki</creatorcontrib><creatorcontrib>Suyama, Itsuzin</creatorcontrib><creatorcontrib>Yamazaki, Takeshi</creatorcontrib><creatorcontrib>Yoshino, Makoto</creatorcontrib><creatorcontrib>Furuyama, Jun-Ichi</creatorcontrib><creatorcontrib>Lin, Hsien-Chin</creatorcontrib><creatorcontrib>Reichardt, Juergen K. V.</creatorcontrib><creatorcontrib>Isshiki, Gen</creatorcontrib><collection>Istex</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Human Genome Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Human mutation</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Ashino, Jiro</au><au>Okano, Yoshiyuki</au><au>Suyama, Itsuzin</au><au>Yamazaki, Takeshi</au><au>Yoshino, Makoto</au><au>Furuyama, Jun-Ichi</au><au>Lin, Hsien-Chin</au><au>Reichardt, Juergen K. V.</au><au>Isshiki, Gen</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Molecular characterization of galactosemia (Type 1)mutations in Japanese</atitle><jtitle>Human mutation</jtitle><addtitle>Hum. Mutat</addtitle><date>1995</date><risdate>1995</risdate><volume>6</volume><issue>1</issue><spage>36</spage><epage>43</epage><pages>36-43</pages><issn>1059-7794</issn><eissn>1098-1004</eissn><abstract>We characterized two novel mutations of the galactose‐1‐phosphate uridyltransferase (GALT) gene intwo Japanese patients with GALT deficiency and identified N314D and R333W mutations, previouslyfound in Caucasians. One novel missense mutation was an G‐to‐A transition in exon 8, resulting in thesubstitution of arginine by histidine at the codon 231 (R231H). GALT activity of the R231H mutantconstruct was reduced to 15% of normal controls in a COS cell expression system. The other was asplicing mutation, an A‐to‐G transition at the 38th nucleotide in exon 3 (318A→G), resulting in a38‐bp deletion in the GALT cDNA by activating a cryptic splice acceptor site. In seven Japanesefamilies (14 alleles for classic form and one allele for Duarte variant) with GALT deficiency, the R231H and 318A→G mutations were found only on both alleles of the proband. The N314D and R333W mutations were found on one allele each. The Q188R was prevalent in the United States butnot in Japanese patients. The N314D mutation was associated with the Duarte variant in Japanesepersons, as well as in the United States. We speculate that classic galactosemia mutations appear todiffer between Japanese and Caucasian patients. Our limited data set on galactosemia mutations in Japanese suggests that the N314D GALT mutation encoding the Duarte variant arose before Asianand Caucasian people diverged and that classic galactosemia mutations arose and/or accumulated afterthe divergence of Asian and Caucasian populations. © 1995 Wiley‐Liss, Inc.</abstract><cop>New York</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>7550229</pmid><doi>10.1002/humu.1380060108</doi><tpages>8</tpages><oa>free_for_read</oa></addata></record> |
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subjects | Amino Acid Sequence Base Sequence Chromosome Mapping COS cell expression system DNA Mutational Analysis Female galactose-1-phosphate uridylyltransferase galactosemia Galactosemias - genetics GALT GALT gene Humans Infant, Newborn Japan Male man missense mutant Missense mutations Molecular Sequence Data mutation Polymerase Chain Reaction splicing Splicing mutation UTP-Hexose-1-Phosphate Uridylyltransferase - deficiency UTP-Hexose-1-Phosphate Uridylyltransferase - genetics |
title | Molecular characterization of galactosemia (Type 1)mutations in Japanese |
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