Mutations in TAZ/WWTR1, a co-activator of NKX2.1 and PAX8 are not a frequent cause of thyroid dysgenesis
Aim : In 80–85% of cases, congenital hypothyroidism is associated with thyroid dysgenesis (TD), but only in a small percentage of cases mutations in thyroid transcription factors (NKX2.1, PAX8, FOXE1, and NKX2.5) have been associated with the disease. Several studies demonstrated that the activity o...
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| Veröffentlicht in: | Journal of endocrinological investigation 2009-03, Vol.32 (3), p.238-241 |
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| creator | Ferrara, A. M. De Sanctis, L. Rossi, G. Capuano, S. Del Prete, G. Zampella, E. Gianino, P. Corrias, A. Fenzi, G. Zannini, M. Macchia, P. E. |
| description | Aim
: In 80–85% of cases, congenital hypothyroidism is associated with thyroid dysgenesis (TD), but only in a small percentage of cases mutations in thyroid transcription factors (NKX2.1, PAX8, FOXE1, and NKX2.5) have been associated with the disease. Several studies demonstrated that the activity of the transcription factors can be modulated by the interaction with other proteins, such as coactivators and co-repressors, and TAZ (transcriptional co-activator with PDZ-binding motif or VVWTR1) is a co-activator interacting with both NKX2.1 and PAX8. In the present study we investigate the role of TAZ in the pathogenesis of TD.
Material and methods
: By Single Stranded Conformational Polymorphism, we screened the entire TAZ coding sequence for mutations in 96 patients with TD and in 96 normal controls.
Results
: No mutations were found in patients and controls, but we found several polymorphisms in both groups. No significant differences could be demonstrated in the prevalence of the mutations between patients and controls.
Conclusions
: Our data indicate that TAZ mutations are not a cause of TD in the series of patients studied. |
| doi_str_mv | 10.1007/BF03346459 |
| format | Article |
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: In 80–85% of cases, congenital hypothyroidism is associated with thyroid dysgenesis (TD), but only in a small percentage of cases mutations in thyroid transcription factors (NKX2.1, PAX8, FOXE1, and NKX2.5) have been associated with the disease. Several studies demonstrated that the activity of the transcription factors can be modulated by the interaction with other proteins, such as coactivators and co-repressors, and TAZ (transcriptional co-activator with PDZ-binding motif or VVWTR1) is a co-activator interacting with both NKX2.1 and PAX8. In the present study we investigate the role of TAZ in the pathogenesis of TD.
Material and methods
: By Single Stranded Conformational Polymorphism, we screened the entire TAZ coding sequence for mutations in 96 patients with TD and in 96 normal controls.
Results
: No mutations were found in patients and controls, but we found several polymorphisms in both groups. No significant differences could be demonstrated in the prevalence of the mutations between patients and controls.
Conclusions
: Our data indicate that TAZ mutations are not a cause of TD in the series of patients studied.</description><identifier>ISSN: 0391-4097</identifier><identifier>EISSN: 1720-8386</identifier><identifier>DOI: 10.1007/BF03346459</identifier><identifier>PMID: 19542741</identifier><language>eng</language><publisher>Cham: Springer International Publishing</publisher><subject>Case-Control Studies ; DNA Mutational Analysis ; Endocrinology ; Gene Frequency ; Genetic Testing ; Humans ; Medicine ; Medicine & Public Health ; Metabolic Diseases ; Mutation - physiology ; Nuclear Proteins - metabolism ; Original Article ; Paired Box Transcription Factors - metabolism ; PAX8 Transcription Factor ; Polymorphism, Single-Stranded Conformational ; Thyroid Dysgenesis - genetics ; Thyroid Nuclear Factor 1 ; Trans-Activators - genetics ; Trans-Activators - metabolism ; Transcription Factors - genetics ; Transcription Factors - metabolism</subject><ispartof>Journal of endocrinological investigation, 2009-03, Vol.32 (3), p.238-241</ispartof><rights>Italian Society of Endocrinology (SIE) 2009</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c321t-d044bca7516b19eb857c4bbcbadaf5075efa707cb955c7122b1308727322d6f73</citedby><cites>FETCH-LOGICAL-c321t-d044bca7516b19eb857c4bbcbadaf5075efa707cb955c7122b1308727322d6f73</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/BF03346459$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/BF03346459$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,780,784,27924,27925,41488,42557,51319</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/19542741$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Ferrara, A. M.</creatorcontrib><creatorcontrib>De Sanctis, L.</creatorcontrib><creatorcontrib>Rossi, G.</creatorcontrib><creatorcontrib>Capuano, S.</creatorcontrib><creatorcontrib>Del Prete, G.</creatorcontrib><creatorcontrib>Zampella, E.</creatorcontrib><creatorcontrib>Gianino, P.</creatorcontrib><creatorcontrib>Corrias, A.</creatorcontrib><creatorcontrib>Fenzi, G.</creatorcontrib><creatorcontrib>Zannini, M.</creatorcontrib><creatorcontrib>Macchia, P. E.</creatorcontrib><title>Mutations in TAZ/WWTR1, a co-activator of NKX2.1 and PAX8 are not a frequent cause of thyroid dysgenesis</title><title>Journal of endocrinological investigation</title><addtitle>J Endocrinol Invest</addtitle><addtitle>J Endocrinol Invest</addtitle><description>Aim
: In 80–85% of cases, congenital hypothyroidism is associated with thyroid dysgenesis (TD), but only in a small percentage of cases mutations in thyroid transcription factors (NKX2.1, PAX8, FOXE1, and NKX2.5) have been associated with the disease. Several studies demonstrated that the activity of the transcription factors can be modulated by the interaction with other proteins, such as coactivators and co-repressors, and TAZ (transcriptional co-activator with PDZ-binding motif or VVWTR1) is a co-activator interacting with both NKX2.1 and PAX8. In the present study we investigate the role of TAZ in the pathogenesis of TD.
Material and methods
: By Single Stranded Conformational Polymorphism, we screened the entire TAZ coding sequence for mutations in 96 patients with TD and in 96 normal controls.
Results
: No mutations were found in patients and controls, but we found several polymorphisms in both groups. No significant differences could be demonstrated in the prevalence of the mutations between patients and controls.
Conclusions
: Our data indicate that TAZ mutations are not a cause of TD in the series of patients studied.</description><subject>Case-Control Studies</subject><subject>DNA Mutational Analysis</subject><subject>Endocrinology</subject><subject>Gene Frequency</subject><subject>Genetic Testing</subject><subject>Humans</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><subject>Metabolic Diseases</subject><subject>Mutation - physiology</subject><subject>Nuclear Proteins - metabolism</subject><subject>Original Article</subject><subject>Paired Box Transcription Factors - metabolism</subject><subject>PAX8 Transcription Factor</subject><subject>Polymorphism, Single-Stranded Conformational</subject><subject>Thyroid Dysgenesis - genetics</subject><subject>Thyroid Nuclear Factor 1</subject><subject>Trans-Activators - genetics</subject><subject>Trans-Activators - metabolism</subject><subject>Transcription Factors - genetics</subject><subject>Transcription Factors - metabolism</subject><issn>0391-4097</issn><issn>1720-8386</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2009</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpt0MtKAzEUBuAgiq3VjQ8gWblQx-Y6mVnWYlWsF6TS4mZIMpk60iY1yQh9e6e04MbVWZyPn3N-AE4xusYIif7NCFHKUsbzPdDFgqAko1m6D7qI5jhhKBcdcBTCF0JU0Ewcgg7OOSOC4S74fGqijLWzAdYWTgYf_el08oavoITaJVLH-kdG56Gr4PPjjFxjKG0JXwezDEpvoHWxlZU3342xEWrZBLOx8XPtXV3Cch3mxppQh2NwUMlFMCe72QPvo9vJ8D4Zv9w9DAfjRFOCY1IixpSWguNU4dyojAvNlNJKlrLiSHBTSYGEVjnnWmBCFKYoE0RQQsq0ErQHzre5K-_ao0IslnXQZrGQ1rgmFKlgiDNEWnixhdq7ELypipWvl9KvC4yKTa_FX68tPtulNmppyj-6K7IFl1sQ2pWdG198ucbb9tP_4n4Bmnh97w</recordid><startdate>20090301</startdate><enddate>20090301</enddate><creator>Ferrara, A. M.</creator><creator>De Sanctis, L.</creator><creator>Rossi, G.</creator><creator>Capuano, S.</creator><creator>Del Prete, G.</creator><creator>Zampella, E.</creator><creator>Gianino, P.</creator><creator>Corrias, A.</creator><creator>Fenzi, G.</creator><creator>Zannini, M.</creator><creator>Macchia, P. E.</creator><general>Springer International Publishing</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>7X8</scope></search><sort><creationdate>20090301</creationdate><title>Mutations in TAZ/WWTR1, a co-activator of NKX2.1 and PAX8 are not a frequent cause of thyroid dysgenesis</title><author>Ferrara, A. M. ; De Sanctis, L. ; Rossi, G. ; Capuano, S. ; Del Prete, G. ; Zampella, E. ; Gianino, P. ; Corrias, A. ; Fenzi, G. ; Zannini, M. ; Macchia, P. E.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c321t-d044bca7516b19eb857c4bbcbadaf5075efa707cb955c7122b1308727322d6f73</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2009</creationdate><topic>Case-Control Studies</topic><topic>DNA Mutational Analysis</topic><topic>Endocrinology</topic><topic>Gene Frequency</topic><topic>Genetic Testing</topic><topic>Humans</topic><topic>Medicine</topic><topic>Medicine & Public Health</topic><topic>Metabolic Diseases</topic><topic>Mutation - physiology</topic><topic>Nuclear Proteins - metabolism</topic><topic>Original Article</topic><topic>Paired Box Transcription Factors - metabolism</topic><topic>PAX8 Transcription Factor</topic><topic>Polymorphism, Single-Stranded Conformational</topic><topic>Thyroid Dysgenesis - genetics</topic><topic>Thyroid Nuclear Factor 1</topic><topic>Trans-Activators - genetics</topic><topic>Trans-Activators - metabolism</topic><topic>Transcription Factors - genetics</topic><topic>Transcription Factors - metabolism</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Ferrara, A. M.</creatorcontrib><creatorcontrib>De Sanctis, L.</creatorcontrib><creatorcontrib>Rossi, G.</creatorcontrib><creatorcontrib>Capuano, S.</creatorcontrib><creatorcontrib>Del Prete, G.</creatorcontrib><creatorcontrib>Zampella, E.</creatorcontrib><creatorcontrib>Gianino, P.</creatorcontrib><creatorcontrib>Corrias, A.</creatorcontrib><creatorcontrib>Fenzi, G.</creatorcontrib><creatorcontrib>Zannini, M.</creatorcontrib><creatorcontrib>Macchia, P. E.</creatorcontrib><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>Journal of endocrinological investigation</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Ferrara, A. M.</au><au>De Sanctis, L.</au><au>Rossi, G.</au><au>Capuano, S.</au><au>Del Prete, G.</au><au>Zampella, E.</au><au>Gianino, P.</au><au>Corrias, A.</au><au>Fenzi, G.</au><au>Zannini, M.</au><au>Macchia, P. E.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Mutations in TAZ/WWTR1, a co-activator of NKX2.1 and PAX8 are not a frequent cause of thyroid dysgenesis</atitle><jtitle>Journal of endocrinological investigation</jtitle><stitle>J Endocrinol Invest</stitle><addtitle>J Endocrinol Invest</addtitle><date>2009-03-01</date><risdate>2009</risdate><volume>32</volume><issue>3</issue><spage>238</spage><epage>241</epage><pages>238-241</pages><issn>0391-4097</issn><eissn>1720-8386</eissn><abstract>Aim
: In 80–85% of cases, congenital hypothyroidism is associated with thyroid dysgenesis (TD), but only in a small percentage of cases mutations in thyroid transcription factors (NKX2.1, PAX8, FOXE1, and NKX2.5) have been associated with the disease. Several studies demonstrated that the activity of the transcription factors can be modulated by the interaction with other proteins, such as coactivators and co-repressors, and TAZ (transcriptional co-activator with PDZ-binding motif or VVWTR1) is a co-activator interacting with both NKX2.1 and PAX8. In the present study we investigate the role of TAZ in the pathogenesis of TD.
Material and methods
: By Single Stranded Conformational Polymorphism, we screened the entire TAZ coding sequence for mutations in 96 patients with TD and in 96 normal controls.
Results
: No mutations were found in patients and controls, but we found several polymorphisms in both groups. No significant differences could be demonstrated in the prevalence of the mutations between patients and controls.
Conclusions
: Our data indicate that TAZ mutations are not a cause of TD in the series of patients studied.</abstract><cop>Cham</cop><pub>Springer International Publishing</pub><pmid>19542741</pmid><doi>10.1007/BF03346459</doi><tpages>4</tpages></addata></record> |
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| identifier | ISSN: 0391-4097 |
| ispartof | Journal of endocrinological investigation, 2009-03, Vol.32 (3), p.238-241 |
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| subjects | Case-Control Studies DNA Mutational Analysis Endocrinology Gene Frequency Genetic Testing Humans Medicine Medicine & Public Health Metabolic Diseases Mutation - physiology Nuclear Proteins - metabolism Original Article Paired Box Transcription Factors - metabolism PAX8 Transcription Factor Polymorphism, Single-Stranded Conformational Thyroid Dysgenesis - genetics Thyroid Nuclear Factor 1 Trans-Activators - genetics Trans-Activators - metabolism Transcription Factors - genetics Transcription Factors - metabolism |
| title | Mutations in TAZ/WWTR1, a co-activator of NKX2.1 and PAX8 are not a frequent cause of thyroid dysgenesis |
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