A Promoter Sequence Variant of ZNF750 Is Linked with Familial Psoriasis
We previously mapped a psoriasis-susceptibility gene to a 3.8-Mb region of the 17q terminus in a five-generation Chinese family with autosomal-dominant psoriasis. To identify the mutations responsible for the psoriasis in this family, we sequenced 78 genes within the region and found four gene varia...
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Veröffentlicht in: | Journal of investigative dermatology 2008-07, Vol.128 (7), p.1662-1668 |
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creator | Yang, Chi-Fan Hwu, Wuh-Liang Yang, Li-Cheng Chung, Wen-Hung Chien, Yin-Hsiu Hung, Chia-Fu Chen, Hung-Chih Tsai, Pei-Joung Fann, Cathy S.J. Liao, Fang Chen, Yuan-Tsong |
description | We previously mapped a psoriasis-susceptibility gene to a 3.8-Mb region of the 17q terminus in a five-generation Chinese family with autosomal-dominant psoriasis. To identify the mutations responsible for the psoriasis in this family, we sequenced 78 genes within the region and found four gene variants, p.Ala201Val in CD7, c.-625A>C in zinc-finger protein 750 (ZNF750), p.Asp189Asn in C17orf56, and p.Ala568Thr in AATK cosegregated with the disease. The latter two variants were not studied further in the absence of disease segregation in other familial psoriasis and presence of variants in normal subjects. Functional analyses of CD7 did not support CD7 as a disease-causing gene. In contrast, the c.-625A>C mutation in ZNF750 resulted in a 42% reduction of the promoter activity, and the electrophoretic mobility shift assay showed binding of nuclear protein(s) to the mutant C allele. The c.-625A>C mutation was found in another sporadic psoriasis patient but was absent in 188 normal controls. Together, the mutation accounts for 1.7% (confidence interval: 0.2–5.84%) of psoriasis in the Chinese population. This report suggests that ZNF750 mutations could contribute to psoriasis susceptibility. |
doi_str_mv | 10.1038/jid.2008.1 |
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To identify the mutations responsible for the psoriasis in this family, we sequenced 78 genes within the region and found four gene variants, p.Ala201Val in CD7, c.-625A>C in zinc-finger protein 750 (ZNF750), p.Asp189Asn in C17orf56, and p.Ala568Thr in AATK cosegregated with the disease. The latter two variants were not studied further in the absence of disease segregation in other familial psoriasis and presence of variants in normal subjects. Functional analyses of CD7 did not support CD7 as a disease-causing gene. In contrast, the c.-625A>C mutation in ZNF750 resulted in a 42% reduction of the promoter activity, and the electrophoretic mobility shift assay showed binding of nuclear protein(s) to the mutant C allele. The c.-625A>C mutation was found in another sporadic psoriasis patient but was absent in 188 normal controls. Together, the mutation accounts for 1.7% (confidence interval: 0.2–5.84%) of psoriasis in the Chinese population. This report suggests that ZNF750 mutations could contribute to psoriasis susceptibility.</description><identifier>ISSN: 0022-202X</identifier><identifier>EISSN: 1523-1747</identifier><identifier>DOI: 10.1038/jid.2008.1</identifier><identifier>PMID: 18256691</identifier><identifier>CODEN: JIDEAE</identifier><language>eng</language><publisher>Danvers, MA: Elsevier Inc</publisher><subject>Antigens, CD7 - genetics ; Biological and medical sciences ; CD7 antigen ; Chromosomes, Human, Pair 17 ; Dermatology ; Electrophoretic mobility ; Genetic Predisposition to Disease ; Humans ; Internet ; Medical sciences ; Mutation ; Promoter Regions, Genetic ; Promoters ; Psoriasis ; Psoriasis - genetics ; Psoriasis. Parapsoriasis. Lichen ; RNA, Messenger - analysis ; Sequence Analysis, DNA ; Zinc finger proteins ; Zinc Fingers - genetics</subject><ispartof>Journal of investigative dermatology, 2008-07, Vol.128 (7), p.1662-1668</ispartof><rights>2008 The Society for Investigative Dermatology, Inc</rights><rights>2008 INIST-CNRS</rights><rights>Copyright Nature Publishing Group Jul 2008</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c456t-4ba5dbdab8f5cec5a360dac473b7595d1244e6102dd0172d2f58e3fc2736e1983</citedby><cites>FETCH-LOGICAL-c456t-4ba5dbdab8f5cec5a360dac473b7595d1244e6102dd0172d2f58e3fc2736e1983</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.proquest.com/docview/210368912?pq-origsite=primo$$EHTML$$P50$$Gproquest$$H</linktohtml><link.rule.ids>314,780,784,27923,27924,64384,64386,64388,72240</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=20452475$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/18256691$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Yang, Chi-Fan</creatorcontrib><creatorcontrib>Hwu, Wuh-Liang</creatorcontrib><creatorcontrib>Yang, Li-Cheng</creatorcontrib><creatorcontrib>Chung, Wen-Hung</creatorcontrib><creatorcontrib>Chien, Yin-Hsiu</creatorcontrib><creatorcontrib>Hung, Chia-Fu</creatorcontrib><creatorcontrib>Chen, Hung-Chih</creatorcontrib><creatorcontrib>Tsai, Pei-Joung</creatorcontrib><creatorcontrib>Fann, Cathy S.J.</creatorcontrib><creatorcontrib>Liao, Fang</creatorcontrib><creatorcontrib>Chen, Yuan-Tsong</creatorcontrib><title>A Promoter Sequence Variant of ZNF750 Is Linked with Familial Psoriasis</title><title>Journal of investigative dermatology</title><addtitle>J Invest Dermatol</addtitle><description>We previously mapped a psoriasis-susceptibility gene to a 3.8-Mb region of the 17q terminus in a five-generation Chinese family with autosomal-dominant psoriasis. To identify the mutations responsible for the psoriasis in this family, we sequenced 78 genes within the region and found four gene variants, p.Ala201Val in CD7, c.-625A>C in zinc-finger protein 750 (ZNF750), p.Asp189Asn in C17orf56, and p.Ala568Thr in AATK cosegregated with the disease. The latter two variants were not studied further in the absence of disease segregation in other familial psoriasis and presence of variants in normal subjects. Functional analyses of CD7 did not support CD7 as a disease-causing gene. In contrast, the c.-625A>C mutation in ZNF750 resulted in a 42% reduction of the promoter activity, and the electrophoretic mobility shift assay showed binding of nuclear protein(s) to the mutant C allele. The c.-625A>C mutation was found in another sporadic psoriasis patient but was absent in 188 normal controls. Together, the mutation accounts for 1.7% (confidence interval: 0.2–5.84%) of psoriasis in the Chinese population. This report suggests that ZNF750 mutations could contribute to psoriasis susceptibility.</description><subject>Antigens, CD7 - genetics</subject><subject>Biological and medical sciences</subject><subject>CD7 antigen</subject><subject>Chromosomes, Human, Pair 17</subject><subject>Dermatology</subject><subject>Electrophoretic mobility</subject><subject>Genetic Predisposition to Disease</subject><subject>Humans</subject><subject>Internet</subject><subject>Medical sciences</subject><subject>Mutation</subject><subject>Promoter Regions, Genetic</subject><subject>Promoters</subject><subject>Psoriasis</subject><subject>Psoriasis - genetics</subject><subject>Psoriasis. Parapsoriasis. Lichen</subject><subject>RNA, Messenger - analysis</subject><subject>Sequence Analysis, DNA</subject><subject>Zinc finger proteins</subject><subject>Zinc Fingers - genetics</subject><issn>0022-202X</issn><issn>1523-1747</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2008</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><recordid>eNp90ctqGzEUBmBRUmon7SYPEESgIRTGlTS6eRlCnQRMa-iF0o3QSGeI3JmRI41b8vaRsWmglK60-Tjn6P8ROqVkRkmt36-DnzFC9Iy-QFMqWF1RxdURmhLCWMUI-z5BxzmvCaGSC_0KTahmQso5naKbK7xKsY8jJPwZHrYwOMDfbAp2GHFs8Y-PCyUIvst4GYaf4PHvMN7jhe1DF2yHVzkWmkN-jV62tsvw5vCeoK-LD1-ub6vlp5u766tl5biQY8UbK3zjbaNb4cAJW0vireOqbpSYC08Z5yApYd4TqphnrdBQt46pWgKd6_oEXeznblIs1-bR9CE76Do7QNxmo6iUmnNe4OV_YdmhieJayULP_6LruE1D-YZhJWCp55QV9G6PXIo5J2jNJoXepscyyexqMKUGs6vB0ILPDhO3TQ_-mR5yL-DtAdjsbNcmO7iQ_zhGuGBcieL43kHJ9FeAZLILu458SOBG42P41_4n8qeevQ</recordid><startdate>20080701</startdate><enddate>20080701</enddate><creator>Yang, Chi-Fan</creator><creator>Hwu, Wuh-Liang</creator><creator>Yang, Li-Cheng</creator><creator>Chung, Wen-Hung</creator><creator>Chien, Yin-Hsiu</creator><creator>Hung, Chia-Fu</creator><creator>Chen, Hung-Chih</creator><creator>Tsai, Pei-Joung</creator><creator>Fann, Cathy S.J.</creator><creator>Liao, Fang</creator><creator>Chen, Yuan-Tsong</creator><general>Elsevier Inc</general><general>Nature Publishing</general><general>Elsevier Limited</general><scope>6I.</scope><scope>AAFTH</scope><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>3V.</scope><scope>7T5</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8FD</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>H94</scope><scope>K9.</scope><scope>M0S</scope><scope>M1P</scope><scope>P64</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>20080701</creationdate><title>A Promoter Sequence Variant of ZNF750 Is Linked with Familial Psoriasis</title><author>Yang, Chi-Fan ; Hwu, Wuh-Liang ; Yang, Li-Cheng ; Chung, Wen-Hung ; Chien, Yin-Hsiu ; Hung, Chia-Fu ; Chen, Hung-Chih ; Tsai, Pei-Joung ; Fann, Cathy S.J. ; Liao, Fang ; Chen, Yuan-Tsong</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c456t-4ba5dbdab8f5cec5a360dac473b7595d1244e6102dd0172d2f58e3fc2736e1983</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2008</creationdate><topic>Antigens, CD7 - genetics</topic><topic>Biological and medical sciences</topic><topic>CD7 antigen</topic><topic>Chromosomes, Human, Pair 17</topic><topic>Dermatology</topic><topic>Electrophoretic mobility</topic><topic>Genetic Predisposition to Disease</topic><topic>Humans</topic><topic>Internet</topic><topic>Medical sciences</topic><topic>Mutation</topic><topic>Promoter Regions, Genetic</topic><topic>Promoters</topic><topic>Psoriasis</topic><topic>Psoriasis - genetics</topic><topic>Psoriasis. Parapsoriasis. Lichen</topic><topic>RNA, Messenger - analysis</topic><topic>Sequence Analysis, DNA</topic><topic>Zinc finger proteins</topic><topic>Zinc Fingers - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Yang, Chi-Fan</creatorcontrib><creatorcontrib>Hwu, Wuh-Liang</creatorcontrib><creatorcontrib>Yang, Li-Cheng</creatorcontrib><creatorcontrib>Chung, Wen-Hung</creatorcontrib><creatorcontrib>Chien, Yin-Hsiu</creatorcontrib><creatorcontrib>Hung, Chia-Fu</creatorcontrib><creatorcontrib>Chen, Hung-Chih</creatorcontrib><creatorcontrib>Tsai, Pei-Joung</creatorcontrib><creatorcontrib>Fann, Cathy S.J.</creatorcontrib><creatorcontrib>Liao, Fang</creatorcontrib><creatorcontrib>Chen, Yuan-Tsong</creatorcontrib><collection>ScienceDirect Open Access Titles</collection><collection>Elsevier:ScienceDirect:Open Access</collection><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>ProQuest Central (Corporate)</collection><collection>Immunology Abstracts</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Technology Research Database</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central</collection><collection>ProQuest One Community College</collection><collection>Engineering Research Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of investigative dermatology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Yang, Chi-Fan</au><au>Hwu, Wuh-Liang</au><au>Yang, Li-Cheng</au><au>Chung, Wen-Hung</au><au>Chien, Yin-Hsiu</au><au>Hung, Chia-Fu</au><au>Chen, Hung-Chih</au><au>Tsai, Pei-Joung</au><au>Fann, Cathy S.J.</au><au>Liao, Fang</au><au>Chen, Yuan-Tsong</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A Promoter Sequence Variant of ZNF750 Is Linked with Familial Psoriasis</atitle><jtitle>Journal of investigative dermatology</jtitle><addtitle>J Invest Dermatol</addtitle><date>2008-07-01</date><risdate>2008</risdate><volume>128</volume><issue>7</issue><spage>1662</spage><epage>1668</epage><pages>1662-1668</pages><issn>0022-202X</issn><eissn>1523-1747</eissn><coden>JIDEAE</coden><abstract>We previously mapped a psoriasis-susceptibility gene to a 3.8-Mb region of the 17q terminus in a five-generation Chinese family with autosomal-dominant psoriasis. To identify the mutations responsible for the psoriasis in this family, we sequenced 78 genes within the region and found four gene variants, p.Ala201Val in CD7, c.-625A>C in zinc-finger protein 750 (ZNF750), p.Asp189Asn in C17orf56, and p.Ala568Thr in AATK cosegregated with the disease. The latter two variants were not studied further in the absence of disease segregation in other familial psoriasis and presence of variants in normal subjects. Functional analyses of CD7 did not support CD7 as a disease-causing gene. In contrast, the c.-625A>C mutation in ZNF750 resulted in a 42% reduction of the promoter activity, and the electrophoretic mobility shift assay showed binding of nuclear protein(s) to the mutant C allele. The c.-625A>C mutation was found in another sporadic psoriasis patient but was absent in 188 normal controls. Together, the mutation accounts for 1.7% (confidence interval: 0.2–5.84%) of psoriasis in the Chinese population. This report suggests that ZNF750 mutations could contribute to psoriasis susceptibility.</abstract><cop>Danvers, MA</cop><pub>Elsevier Inc</pub><pmid>18256691</pmid><doi>10.1038/jid.2008.1</doi><tpages>7</tpages><oa>free_for_read</oa></addata></record> |
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subjects | Antigens, CD7 - genetics Biological and medical sciences CD7 antigen Chromosomes, Human, Pair 17 Dermatology Electrophoretic mobility Genetic Predisposition to Disease Humans Internet Medical sciences Mutation Promoter Regions, Genetic Promoters Psoriasis Psoriasis - genetics Psoriasis. Parapsoriasis. Lichen RNA, Messenger - analysis Sequence Analysis, DNA Zinc finger proteins Zinc Fingers - genetics |
title | A Promoter Sequence Variant of ZNF750 Is Linked with Familial Psoriasis |
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