Catalog of 258 single-nucleotide polymorphisms (SNPs) in genes encoding three organic anion transporters, three organic anion-transporting polypeptides, and three NADH:ubiquinone oxidoreductase flavoproteins
We present here a series of high-density maps of single-nucleotide polymorphisms (SNPs) detected in genes encoding three organic-anion transporters, three organic anion-transporting polypeptides, and three nicotinamide adenine dinucleotide, reduced:ubiquinone oxidoreductase flavoproteins. A total of...
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description | We present here a series of high-density maps of single-nucleotide polymorphisms (SNPs) detected in genes encoding three organic-anion transporters, three organic anion-transporting polypeptides, and three nicotinamide adenine dinucleotide, reduced:ubiquinone oxidoreductase flavoproteins. A total of 258 SNPs were identified among these nine genes through systematic screening of DNA from 48 Japanese individuals: 17 in 5′ flanking regions, three in 5′ untranslated regions, 13 in coding regions, 211 in introns, six in 3′ untranslated regions, and 8 in 3′ flanking regions. By comparing our data with SNPs deposited in the dbSNP database in the National Center for Biotechnology Information, we determined that 236 (91.5%) were novel. In addition, 46 genetic variations of other types were discovered within these loci. These high-resolution maps will serve as a useful resource for analyzing potential associations between variations in these nine genes and differences in human susceptibilities to common diseases or response to drug therapies. |
doi_str_mv | 10.1007/s100380170019 |
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A total of 258 SNPs were identified among these nine genes through systematic screening of DNA from 48 Japanese individuals: 17 in 5′ flanking regions, three in 5′ untranslated regions, 13 in coding regions, 211 in introns, six in 3′ untranslated regions, and 8 in 3′ flanking regions. By comparing our data with SNPs deposited in the dbSNP database in the National Center for Biotechnology Information, we determined that 236 (91.5%) were novel. In addition, 46 genetic variations of other types were discovered within these loci. These high-resolution maps will serve as a useful resource for analyzing potential associations between variations in these nine genes and differences in human susceptibilities to common diseases or response to drug therapies.</description><identifier>ISSN: 1434-5161</identifier><identifier>EISSN: 1435-232X</identifier><identifier>DOI: 10.1007/s100380170019</identifier><identifier>PMID: 11721887</identifier><language>eng</language><publisher>Tokyo: Springer-Verlag</publisher><subject>3' Untranslated regions ; 5' Untranslated Regions ; Adenine ; Biomedical and Life Sciences ; Biomedicine ; Biotechnology ; Chromosome Mapping ; DNA - blood ; DNA - isolation & purification ; Drug therapy ; Electron Transport Complex I ; European Continental Ancestry Group - genetics ; Exons ; Flavoproteins ; Flavoproteins - genetics ; Gene Expression ; Gene Function ; Gene mapping ; Gene Therapy ; Genetic diversity ; Human Genetics ; Humans ; Introns ; Ions ; Japan ; Molecular Medicine ; Multigene Family ; NAD ; NADH ; NADH, NADPH Oxidoreductases - genetics ; NADH-ubiquinone oxidoreductase ; Organic Anion Transporters - genetics ; Organic Anion Transporters, Sodium-Independent ; Original Article ; Polymorphism, Single Nucleotide - genetics ; Polypeptides ; Single-nucleotide polymorphism ; Solute Carrier Organic Anion Transporter Family Member 1b1 - genetics ; Ubiquinone ; Ubiquinone oxidoreductase</subject><ispartof>Journal of human genetics, 2001-01, Vol.46 (11), p.668-683</ispartof><rights>The Japanese Society of Human Genetics and Springer-Verlag Tokyo 2001</rights><rights>The Japanese Society of Human Genetics and Springer-Verlag Tokyo 2001.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c510t-11d77fe3a9d3708b11727660a59b4c947d7a8c61885c7f972238e056710300923</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s100380170019$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s100380170019$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,777,781,27905,27906,41469,42538,51300</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/11721887$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Iida, A.</creatorcontrib><creatorcontrib>Saito, S.</creatorcontrib><creatorcontrib>Sekine, A.</creatorcontrib><creatorcontrib>Mishima, C.</creatorcontrib><creatorcontrib>Kondo, K.</creatorcontrib><creatorcontrib>Kitamura, Y.</creatorcontrib><creatorcontrib>Harigae, S.</creatorcontrib><creatorcontrib>Osawa, S.</creatorcontrib><creatorcontrib>Nakamura, Y.</creatorcontrib><title>Catalog of 258 single-nucleotide polymorphisms (SNPs) in genes encoding three organic anion transporters, three organic anion-transporting polypeptides, and three NADH:ubiquinone oxidoreductase flavoproteins</title><title>Journal of human genetics</title><addtitle>J Hum Genet</addtitle><addtitle>J Hum Genet</addtitle><description>We present here a series of high-density maps of single-nucleotide polymorphisms (SNPs) detected in genes encoding three organic-anion transporters, three organic anion-transporting polypeptides, and three nicotinamide adenine dinucleotide, reduced:ubiquinone oxidoreductase flavoproteins. A total of 258 SNPs were identified among these nine genes through systematic screening of DNA from 48 Japanese individuals: 17 in 5′ flanking regions, three in 5′ untranslated regions, 13 in coding regions, 211 in introns, six in 3′ untranslated regions, and 8 in 3′ flanking regions. By comparing our data with SNPs deposited in the dbSNP database in the National Center for Biotechnology Information, we determined that 236 (91.5%) were novel. In addition, 46 genetic variations of other types were discovered within these loci. These high-resolution maps will serve as a useful resource for analyzing potential associations between variations in these nine genes and differences in human susceptibilities to common diseases or response to drug therapies.</description><subject>3' Untranslated regions</subject><subject>5' Untranslated Regions</subject><subject>Adenine</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>Biotechnology</subject><subject>Chromosome Mapping</subject><subject>DNA - blood</subject><subject>DNA - isolation & purification</subject><subject>Drug therapy</subject><subject>Electron Transport Complex I</subject><subject>European Continental Ancestry Group - genetics</subject><subject>Exons</subject><subject>Flavoproteins</subject><subject>Flavoproteins - genetics</subject><subject>Gene Expression</subject><subject>Gene Function</subject><subject>Gene mapping</subject><subject>Gene Therapy</subject><subject>Genetic diversity</subject><subject>Human Genetics</subject><subject>Humans</subject><subject>Introns</subject><subject>Ions</subject><subject>Japan</subject><subject>Molecular Medicine</subject><subject>Multigene Family</subject><subject>NAD</subject><subject>NADH</subject><subject>NADH, NADPH Oxidoreductases - genetics</subject><subject>NADH-ubiquinone oxidoreductase</subject><subject>Organic Anion Transporters - genetics</subject><subject>Organic Anion Transporters, Sodium-Independent</subject><subject>Original Article</subject><subject>Polymorphism, Single Nucleotide - genetics</subject><subject>Polypeptides</subject><subject>Single-nucleotide polymorphism</subject><subject>Solute Carrier Organic Anion Transporter Family Member 1b1 - genetics</subject><subject>Ubiquinone</subject><subject>Ubiquinone oxidoreductase</subject><issn>1434-5161</issn><issn>1435-232X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2001</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNptkV9r1jAUxoMobk4vvZWAIAp2JmnTtLsbr38mjCmo4F3Jm5x2GW3S5aTiPqVfydT3xaHs5iSQ3_M84TyEPOXsmDOm3mCeZcO4Yoy398ghr0pZiFJ8v__nXhWS1_yAPEK8YpkUSjwkB5wrwZtGHZJfG530GAYaeipkQ9H5YYTCL2aEkJwFOofxZgpxvnQ4IX355eIzvqLO0wE8IAVvgs0ami4jAA1x0N4ZmkfwNEXtcQ4xQcTXdxHFX2K1WJNmmNfUjGtv95KL07dnJ8vWXS_OB58tfjobItjFJI1A-1H_CHMMCZzHx-RBr0eEJ_vziHx7_-7r5qw4__Th4-b0vDCSs1RwbpXqodStLRVrtutCVF0zLdttZdpKWaUbU-cdSaP6VglRNsBkrTgrGWtFeURe7Hxz8PUCmLrJoYFx1B7Cgl1WtLmVFXz-H3gVlujz3zpRCVlzyao2U8WOMjEgRui7ObpJx5uOs27tufun58w_27su2wnsLb0vNgPHOwDzkx8g3sbe7fgbdHi0Og</recordid><startdate>20010101</startdate><enddate>20010101</enddate><creator>Iida, A.</creator><creator>Saito, S.</creator><creator>Sekine, A.</creator><creator>Mishima, C.</creator><creator>Kondo, K.</creator><creator>Kitamura, Y.</creator><creator>Harigae, S.</creator><creator>Osawa, S.</creator><creator>Nakamura, Y.</creator><general>Springer-Verlag</general><general>Nature Publishing Group</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>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8FD</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M7P</scope><scope>P64</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>20010101</creationdate><title>Catalog of 258 single-nucleotide polymorphisms (SNPs) in genes encoding three organic anion transporters, three organic anion-transporting polypeptides, and three NADH:ubiquinone oxidoreductase flavoproteins</title><author>Iida, A. ; Saito, S. ; Sekine, A. ; Mishima, C. ; Kondo, K. ; Kitamura, Y. ; Harigae, S. ; Osawa, S. ; Nakamura, Y.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c510t-11d77fe3a9d3708b11727660a59b4c947d7a8c61885c7f972238e056710300923</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2001</creationdate><topic>3' Untranslated regions</topic><topic>5' Untranslated Regions</topic><topic>Adenine</topic><topic>Biomedical and Life Sciences</topic><topic>Biomedicine</topic><topic>Biotechnology</topic><topic>Chromosome Mapping</topic><topic>DNA - blood</topic><topic>DNA - isolation & purification</topic><topic>Drug therapy</topic><topic>Electron Transport Complex I</topic><topic>European Continental Ancestry Group - genetics</topic><topic>Exons</topic><topic>Flavoproteins</topic><topic>Flavoproteins - genetics</topic><topic>Gene Expression</topic><topic>Gene Function</topic><topic>Gene mapping</topic><topic>Gene Therapy</topic><topic>Genetic diversity</topic><topic>Human Genetics</topic><topic>Humans</topic><topic>Introns</topic><topic>Ions</topic><topic>Japan</topic><topic>Molecular Medicine</topic><topic>Multigene Family</topic><topic>NAD</topic><topic>NADH</topic><topic>NADH, NADPH Oxidoreductases - genetics</topic><topic>NADH-ubiquinone oxidoreductase</topic><topic>Organic Anion Transporters - genetics</topic><topic>Organic Anion Transporters, Sodium-Independent</topic><topic>Original Article</topic><topic>Polymorphism, Single Nucleotide - genetics</topic><topic>Polypeptides</topic><topic>Single-nucleotide polymorphism</topic><topic>Solute Carrier Organic Anion Transporter Family Member 1b1 - 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A total of 258 SNPs were identified among these nine genes through systematic screening of DNA from 48 Japanese individuals: 17 in 5′ flanking regions, three in 5′ untranslated regions, 13 in coding regions, 211 in introns, six in 3′ untranslated regions, and 8 in 3′ flanking regions. By comparing our data with SNPs deposited in the dbSNP database in the National Center for Biotechnology Information, we determined that 236 (91.5%) were novel. In addition, 46 genetic variations of other types were discovered within these loci. These high-resolution maps will serve as a useful resource for analyzing potential associations between variations in these nine genes and differences in human susceptibilities to common diseases or response to drug therapies.</abstract><cop>Tokyo</cop><pub>Springer-Verlag</pub><pmid>11721887</pmid><doi>10.1007/s100380170019</doi><tpages>16</tpages><oa>free_for_read</oa></addata></record> |
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subjects | 3' Untranslated regions 5' Untranslated Regions Adenine Biomedical and Life Sciences Biomedicine Biotechnology Chromosome Mapping DNA - blood DNA - isolation & purification Drug therapy Electron Transport Complex I European Continental Ancestry Group - genetics Exons Flavoproteins Flavoproteins - genetics Gene Expression Gene Function Gene mapping Gene Therapy Genetic diversity Human Genetics Humans Introns Ions Japan Molecular Medicine Multigene Family NAD NADH NADH, NADPH Oxidoreductases - genetics NADH-ubiquinone oxidoreductase Organic Anion Transporters - genetics Organic Anion Transporters, Sodium-Independent Original Article Polymorphism, Single Nucleotide - genetics Polypeptides Single-nucleotide polymorphism Solute Carrier Organic Anion Transporter Family Member 1b1 - genetics Ubiquinone Ubiquinone oxidoreductase |
title | Catalog of 258 single-nucleotide polymorphisms (SNPs) in genes encoding three organic anion transporters, three organic anion-transporting polypeptides, and three NADH:ubiquinone oxidoreductase flavoproteins |
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