Molecular scanning of the human peroxisome proliferator activated receptor gamma (hPPAR gamma) gene in diabetic Caucasians: identification of a Pro12Ala PPAR gamma 2 missense mutation
Peroxisome proliferator activated receptor-gamma (PPAR gamma) is a nuclear receptor that regulates adipocyte differentiation, and possibly lipid metabolism and insulin sensitivity. As such, PPAR gamma is a promising candidate gene for several human disorders including obesity and type 2 diabetes mel...
Gespeichert in:
| Veröffentlicht in: | Biochemical and biophysical research communications 1997-12, Vol.241 (2), p.270-274 |
|---|---|
| Hauptverfasser: | , , , , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 274 |
|---|---|
| container_issue | 2 |
| container_start_page | 270 |
| container_title | Biochemical and biophysical research communications |
| container_volume | 241 |
| creator | Yen, C J Beamer, B A Negri, C Silver, K Brown, K A Yarnall, D P Burns, D K Roth, J Shuldiner, A R |
| description | Peroxisome proliferator activated receptor-gamma (PPAR gamma) is a nuclear receptor that regulates adipocyte differentiation, and possibly lipid metabolism and insulin sensitivity. As such, PPAR gamma is a promising candidate gene for several human disorders including obesity and type 2 diabetes mellitus. Screening for mutations in the entire coding region of the PPAR gamma gene (both gamma 1 and gamma 2 isoforms) was performed with DNA of 26 diabetic Caucasians with or without obesity. Two base substitutions were identified: a silent mutation at nucleotide 1431 (CACHis-->CATHis) and a missense mutation (CCGPro-->GCGAla) at codon 12 of PPAR gamma 2. The allele frequency of the Pro12Ala PPAR gamma 2 variant was 0.12 in Caucasian Americans, 0.10 in Mexican Americans, 0.08 in Samoans, 0.03 in African Americans, 0.02 in Nauruans, and 0.01 in Chinese. We conclude that the Pro12Ala PPAR gamma 2 gene variant is present in diverse populations. Further studies of the Pro12Ala variant will determine its relevance to obesity, insulin resistance, and type 2 diabetes. |
| doi_str_mv | 10.1006/bbrc.1997.7798 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_proquest_miscellaneous_79517191</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>79517191</sourcerecordid><originalsourceid>FETCH-LOGICAL-p138t-7263a74f25e9544386a7b8f3dc054ae564889f5b985d88eb8b64f5fceb8b8c633</originalsourceid><addsrcrecordid>eNo9kMtu2zAQRblokDqPbXYFZlWkCzuiJEpkd4aRPgAXNYIEyM4YUUObhUQqJBWkX5bfi9wYXc2di4M7D8aueLbgWVbdNE3QC65UvahrJT-wWTa581zxx4_sLMY_WcZ5WalTdqrKXOQVn7HXX74jPXYYIGp0zrodeANpT7Afe3QwUPAvNvqeYAi-s4YCJh8AdbLPmKiFQJqGg7XDvke43m82y7v35gvsyBFYB63FhpLVsMJRY7To4lewLblkjdWYrHeHuQib4Hm-7CbxPwVy6G2M5CJBP6Z_8AU7MdhFujzWc_bw7fZ-9WO-_v3952q5ng-8kGle51WBdWlyQUqUZSErrBtpilZnokQSVSmlMqJRUrRSUiObqjTC6IOSuiqKc_b5PXc6_mmkmLbTKpq6Dh35MW5rJXjNFZ_AT0dwbHpqt0OwPYa_2-Onizes9oFO</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>79517191</pqid></control><display><type>article</type><title>Molecular scanning of the human peroxisome proliferator activated receptor gamma (hPPAR gamma) gene in diabetic Caucasians: identification of a Pro12Ala PPAR gamma 2 missense mutation</title><source>MEDLINE</source><source>Elsevier ScienceDirect Journals</source><creator>Yen, C J ; Beamer, B A ; Negri, C ; Silver, K ; Brown, K A ; Yarnall, D P ; Burns, D K ; Roth, J ; Shuldiner, A R</creator><creatorcontrib>Yen, C J ; Beamer, B A ; Negri, C ; Silver, K ; Brown, K A ; Yarnall, D P ; Burns, D K ; Roth, J ; Shuldiner, A R</creatorcontrib><description>Peroxisome proliferator activated receptor-gamma (PPAR gamma) is a nuclear receptor that regulates adipocyte differentiation, and possibly lipid metabolism and insulin sensitivity. As such, PPAR gamma is a promising candidate gene for several human disorders including obesity and type 2 diabetes mellitus. Screening for mutations in the entire coding region of the PPAR gamma gene (both gamma 1 and gamma 2 isoforms) was performed with DNA of 26 diabetic Caucasians with or without obesity. Two base substitutions were identified: a silent mutation at nucleotide 1431 (CACHis-->CATHis) and a missense mutation (CCGPro-->GCGAla) at codon 12 of PPAR gamma 2. The allele frequency of the Pro12Ala PPAR gamma 2 variant was 0.12 in Caucasian Americans, 0.10 in Mexican Americans, 0.08 in Samoans, 0.03 in African Americans, 0.02 in Nauruans, and 0.01 in Chinese. We conclude that the Pro12Ala PPAR gamma 2 gene variant is present in diverse populations. Further studies of the Pro12Ala variant will determine its relevance to obesity, insulin resistance, and type 2 diabetes.</description><identifier>ISSN: 0006-291X</identifier><identifier>DOI: 10.1006/bbrc.1997.7798</identifier><identifier>PMID: 9425261</identifier><language>eng</language><publisher>United States</publisher><subject>Adult ; Aged ; Aged, 80 and over ; Amino Acid Sequence ; Base Sequence ; Cloning, Molecular ; Diabetes Mellitus, Type 2 - genetics ; European Continental Ancestry Group - genetics ; Exons ; Female ; Gene Frequency ; Genetic Testing - methods ; Humans ; Male ; Middle Aged ; Molecular Sequence Data ; Mutation ; Obesity - genetics ; Polymerase Chain Reaction ; Polymorphism, Restriction Fragment Length ; Polymorphism, Single-Stranded Conformational ; Receptors, Cytoplasmic and Nuclear - genetics ; Sequence Analysis, DNA ; Transcription Factors - genetics ; United States</subject><ispartof>Biochemical and biophysical research communications, 1997-12, Vol.241 (2), p.270-274</ispartof><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27903,27904</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/9425261$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Yen, C J</creatorcontrib><creatorcontrib>Beamer, B A</creatorcontrib><creatorcontrib>Negri, C</creatorcontrib><creatorcontrib>Silver, K</creatorcontrib><creatorcontrib>Brown, K A</creatorcontrib><creatorcontrib>Yarnall, D P</creatorcontrib><creatorcontrib>Burns, D K</creatorcontrib><creatorcontrib>Roth, J</creatorcontrib><creatorcontrib>Shuldiner, A R</creatorcontrib><title>Molecular scanning of the human peroxisome proliferator activated receptor gamma (hPPAR gamma) gene in diabetic Caucasians: identification of a Pro12Ala PPAR gamma 2 missense mutation</title><title>Biochemical and biophysical research communications</title><addtitle>Biochem Biophys Res Commun</addtitle><description>Peroxisome proliferator activated receptor-gamma (PPAR gamma) is a nuclear receptor that regulates adipocyte differentiation, and possibly lipid metabolism and insulin sensitivity. As such, PPAR gamma is a promising candidate gene for several human disorders including obesity and type 2 diabetes mellitus. Screening for mutations in the entire coding region of the PPAR gamma gene (both gamma 1 and gamma 2 isoforms) was performed with DNA of 26 diabetic Caucasians with or without obesity. Two base substitutions were identified: a silent mutation at nucleotide 1431 (CACHis-->CATHis) and a missense mutation (CCGPro-->GCGAla) at codon 12 of PPAR gamma 2. The allele frequency of the Pro12Ala PPAR gamma 2 variant was 0.12 in Caucasian Americans, 0.10 in Mexican Americans, 0.08 in Samoans, 0.03 in African Americans, 0.02 in Nauruans, and 0.01 in Chinese. We conclude that the Pro12Ala PPAR gamma 2 gene variant is present in diverse populations. Further studies of the Pro12Ala variant will determine its relevance to obesity, insulin resistance, and type 2 diabetes.</description><subject>Adult</subject><subject>Aged</subject><subject>Aged, 80 and over</subject><subject>Amino Acid Sequence</subject><subject>Base Sequence</subject><subject>Cloning, Molecular</subject><subject>Diabetes Mellitus, Type 2 - genetics</subject><subject>European Continental Ancestry Group - genetics</subject><subject>Exons</subject><subject>Female</subject><subject>Gene Frequency</subject><subject>Genetic Testing - methods</subject><subject>Humans</subject><subject>Male</subject><subject>Middle Aged</subject><subject>Molecular Sequence Data</subject><subject>Mutation</subject><subject>Obesity - genetics</subject><subject>Polymerase Chain Reaction</subject><subject>Polymorphism, Restriction Fragment Length</subject><subject>Polymorphism, Single-Stranded Conformational</subject><subject>Receptors, Cytoplasmic and Nuclear - genetics</subject><subject>Sequence Analysis, DNA</subject><subject>Transcription Factors - genetics</subject><subject>United States</subject><issn>0006-291X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1997</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNo9kMtu2zAQRblokDqPbXYFZlWkCzuiJEpkd4aRPgAXNYIEyM4YUUObhUQqJBWkX5bfi9wYXc2di4M7D8aueLbgWVbdNE3QC65UvahrJT-wWTa581zxx4_sLMY_WcZ5WalTdqrKXOQVn7HXX74jPXYYIGp0zrodeANpT7Afe3QwUPAvNvqeYAi-s4YCJh8AdbLPmKiFQJqGg7XDvke43m82y7v35gvsyBFYB63FhpLVsMJRY7To4lewLblkjdWYrHeHuQib4Hm-7CbxPwVy6G2M5CJBP6Z_8AU7MdhFujzWc_bw7fZ-9WO-_v3952q5ng-8kGle51WBdWlyQUqUZSErrBtpilZnokQSVSmlMqJRUrRSUiObqjTC6IOSuiqKc_b5PXc6_mmkmLbTKpq6Dh35MW5rJXjNFZ_AT0dwbHpqt0OwPYa_2-Onizes9oFO</recordid><startdate>19971218</startdate><enddate>19971218</enddate><creator>Yen, C J</creator><creator>Beamer, B A</creator><creator>Negri, C</creator><creator>Silver, K</creator><creator>Brown, K A</creator><creator>Yarnall, D P</creator><creator>Burns, D K</creator><creator>Roth, J</creator><creator>Shuldiner, A R</creator><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>7X8</scope></search><sort><creationdate>19971218</creationdate><title>Molecular scanning of the human peroxisome proliferator activated receptor gamma (hPPAR gamma) gene in diabetic Caucasians: identification of a Pro12Ala PPAR gamma 2 missense mutation</title><author>Yen, C J ; Beamer, B A ; Negri, C ; Silver, K ; Brown, K A ; Yarnall, D P ; Burns, D K ; Roth, J ; Shuldiner, A R</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-p138t-7263a74f25e9544386a7b8f3dc054ae564889f5b985d88eb8b64f5fceb8b8c633</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1997</creationdate><topic>Adult</topic><topic>Aged</topic><topic>Aged, 80 and over</topic><topic>Amino Acid Sequence</topic><topic>Base Sequence</topic><topic>Cloning, Molecular</topic><topic>Diabetes Mellitus, Type 2 - genetics</topic><topic>European Continental Ancestry Group - genetics</topic><topic>Exons</topic><topic>Female</topic><topic>Gene Frequency</topic><topic>Genetic Testing - methods</topic><topic>Humans</topic><topic>Male</topic><topic>Middle Aged</topic><topic>Molecular Sequence Data</topic><topic>Mutation</topic><topic>Obesity - genetics</topic><topic>Polymerase Chain Reaction</topic><topic>Polymorphism, Restriction Fragment Length</topic><topic>Polymorphism, Single-Stranded Conformational</topic><topic>Receptors, Cytoplasmic and Nuclear - genetics</topic><topic>Sequence Analysis, DNA</topic><topic>Transcription Factors - genetics</topic><topic>United States</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Yen, C J</creatorcontrib><creatorcontrib>Beamer, B A</creatorcontrib><creatorcontrib>Negri, C</creatorcontrib><creatorcontrib>Silver, K</creatorcontrib><creatorcontrib>Brown, K A</creatorcontrib><creatorcontrib>Yarnall, D P</creatorcontrib><creatorcontrib>Burns, D K</creatorcontrib><creatorcontrib>Roth, J</creatorcontrib><creatorcontrib>Shuldiner, A R</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>MEDLINE - Academic</collection><jtitle>Biochemical and biophysical research communications</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Yen, C J</au><au>Beamer, B A</au><au>Negri, C</au><au>Silver, K</au><au>Brown, K A</au><au>Yarnall, D P</au><au>Burns, D K</au><au>Roth, J</au><au>Shuldiner, A R</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Molecular scanning of the human peroxisome proliferator activated receptor gamma (hPPAR gamma) gene in diabetic Caucasians: identification of a Pro12Ala PPAR gamma 2 missense mutation</atitle><jtitle>Biochemical and biophysical research communications</jtitle><addtitle>Biochem Biophys Res Commun</addtitle><date>1997-12-18</date><risdate>1997</risdate><volume>241</volume><issue>2</issue><spage>270</spage><epage>274</epage><pages>270-274</pages><issn>0006-291X</issn><abstract>Peroxisome proliferator activated receptor-gamma (PPAR gamma) is a nuclear receptor that regulates adipocyte differentiation, and possibly lipid metabolism and insulin sensitivity. As such, PPAR gamma is a promising candidate gene for several human disorders including obesity and type 2 diabetes mellitus. Screening for mutations in the entire coding region of the PPAR gamma gene (both gamma 1 and gamma 2 isoforms) was performed with DNA of 26 diabetic Caucasians with or without obesity. Two base substitutions were identified: a silent mutation at nucleotide 1431 (CACHis-->CATHis) and a missense mutation (CCGPro-->GCGAla) at codon 12 of PPAR gamma 2. The allele frequency of the Pro12Ala PPAR gamma 2 variant was 0.12 in Caucasian Americans, 0.10 in Mexican Americans, 0.08 in Samoans, 0.03 in African Americans, 0.02 in Nauruans, and 0.01 in Chinese. We conclude that the Pro12Ala PPAR gamma 2 gene variant is present in diverse populations. Further studies of the Pro12Ala variant will determine its relevance to obesity, insulin resistance, and type 2 diabetes.</abstract><cop>United States</cop><pmid>9425261</pmid><doi>10.1006/bbrc.1997.7798</doi><tpages>5</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0006-291X |
| ispartof | Biochemical and biophysical research communications, 1997-12, Vol.241 (2), p.270-274 |
| issn | 0006-291X |
| language | eng |
| recordid | cdi_proquest_miscellaneous_79517191 |
| source | MEDLINE; Elsevier ScienceDirect Journals |
| subjects | Adult Aged Aged, 80 and over Amino Acid Sequence Base Sequence Cloning, Molecular Diabetes Mellitus, Type 2 - genetics European Continental Ancestry Group - genetics Exons Female Gene Frequency Genetic Testing - methods Humans Male Middle Aged Molecular Sequence Data Mutation Obesity - genetics Polymerase Chain Reaction Polymorphism, Restriction Fragment Length Polymorphism, Single-Stranded Conformational Receptors, Cytoplasmic and Nuclear - genetics Sequence Analysis, DNA Transcription Factors - genetics United States |
| title | Molecular scanning of the human peroxisome proliferator activated receptor gamma (hPPAR gamma) gene in diabetic Caucasians: identification of a Pro12Ala PPAR gamma 2 missense mutation |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-21T12%3A06%3A04IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_pubme&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Molecular%20scanning%20of%20the%20human%20peroxisome%20proliferator%20activated%20receptor%20gamma%20(hPPAR%20gamma)%20gene%20in%20diabetic%20Caucasians:%20identification%20of%20a%20Pro12Ala%20PPAR%20gamma%202%20missense%20mutation&rft.jtitle=Biochemical%20and%20biophysical%20research%20communications&rft.au=Yen,%20C%20J&rft.date=1997-12-18&rft.volume=241&rft.issue=2&rft.spage=270&rft.epage=274&rft.pages=270-274&rft.issn=0006-291X&rft_id=info:doi/10.1006/bbrc.1997.7798&rft_dat=%3Cproquest_pubme%3E79517191%3C/proquest_pubme%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=79517191&rft_id=info:pmid/9425261&rfr_iscdi=true |