Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly
The human Sonic Hedgehog gene (SHH) is one of the vertebrate homologs related to the Drosophila segment polarity gene hedgehog. The entire coding and promoter region of the SHH gene, including 2 kb 5' of the transcriptional start site has been screened for mutations in families with autosomal d...
Gespeichert in:
| Veröffentlicht in: | Human genetics 1998-04, Vol.102 (4), p.387-392 |
|---|---|
| Hauptverfasser: | , , , , , , , , , , , , , , , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 392 |
|---|---|
| container_issue | 4 |
| container_start_page | 387 |
| container_title | Human genetics |
| container_volume | 102 |
| creator | VARGAS, F. R ROESSLER, E CORREIA, P FELIX, T GEREIGE, R CUNNINGHAM, M. L CANUN, S ANTONARAKIS, S. E STRACHAN, T TSUI, L.-C SCHERER, S. W MUENKE, M GAUDENZ, K BELLONI, E WHITEHEAD, A. S KIRKE, P. N MILLS, J. L HOOPER, G STEVENSON, R. E CORDEIRO, I |
| description | The human Sonic Hedgehog gene (SHH) is one of the vertebrate homologs related to the Drosophila segment polarity gene hedgehog. The entire coding and promoter region of the SHH gene, including 2 kb 5' of the transcriptional start site has been screened for mutations in families with autosomal dominant sacral agenesis and autosomal dominant triphalangeal thumb, two conditions previously known to be linked to 7q36. We have also studied the SHH gene in five families with mirror polydactyly associated with tibial hemimelia and in 51 unrelated patients with neural tube defects. Except for two sequence variants in exon 3, no mutations were found in these disease categories. OFF |
| doi_str_mv | 10.1007/s004390050709 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_79888722</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>79888722</sourcerecordid><originalsourceid>FETCH-LOGICAL-c383t-be58b9277dfc58dbc8a00b4bc0a3f8645059c6df17b9f33f53a681313e9f8d143</originalsourceid><addsrcrecordid>eNpVkE1v1DAQhi0EKkvpkSOSD6inBsZ2EtvHqqK0UiUOwDma-CNrlNiLnT3kxk_HtKtKPY0088yjmZeQDww-MwD5pQC0QgN0IEG_IjvWCt4wDuI12YFooeklk2_Ju1J-A7BO8-6MnOkegAu-I3-vI85bCYUmT9e9o_vjgpH-SDEYeufs5PZpoibZECeK0dJDTktaXabZTSHFQkOkBU3GmeLkoquqK7rmcNjjjHFytb9W53j1uL2EnFOmhzRvFs26zdt78sbjXNzFqZ6TX7dff97cNQ_fv93fXD80RiixNqPr1Ki5lNabTtnRKAQY29EACq_6toNOm956JkfthfCdwF4xwYTTXtmayTm5fPLWB_4cXVmHJRTj5nqkS8cySK2UkpxXsHkCTU6lZOeHQw4L5m1gMPxPfHiReOU_nsTHcXH2mT5FXOefTnMsBmefMZpQnjHOmWh7Lv4BWVOJ3g</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>79888722</pqid></control><display><type>article</type><title>Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly</title><source>MEDLINE</source><source>SpringerLink Journals</source><creator>VARGAS, F. R ; ROESSLER, E ; CORREIA, P ; FELIX, T ; GEREIGE, R ; CUNNINGHAM, M. L ; CANUN, S ; ANTONARAKIS, S. E ; STRACHAN, T ; TSUI, L.-C ; SCHERER, S. W ; MUENKE, M ; GAUDENZ, K ; BELLONI, E ; WHITEHEAD, A. S ; KIRKE, P. N ; MILLS, J. L ; HOOPER, G ; STEVENSON, R. E ; CORDEIRO, I</creator><creatorcontrib>VARGAS, F. R ; ROESSLER, E ; CORREIA, P ; FELIX, T ; GEREIGE, R ; CUNNINGHAM, M. L ; CANUN, S ; ANTONARAKIS, S. E ; STRACHAN, T ; TSUI, L.-C ; SCHERER, S. W ; MUENKE, M ; GAUDENZ, K ; BELLONI, E ; WHITEHEAD, A. S ; KIRKE, P. N ; MILLS, J. L ; HOOPER, G ; STEVENSON, R. E ; CORDEIRO, I</creatorcontrib><description>The human Sonic Hedgehog gene (SHH) is one of the vertebrate homologs related to the Drosophila segment polarity gene hedgehog. The entire coding and promoter region of the SHH gene, including 2 kb 5' of the transcriptional start site has been screened for mutations in families with autosomal dominant sacral agenesis and autosomal dominant triphalangeal thumb, two conditions previously known to be linked to 7q36. We have also studied the SHH gene in five families with mirror polydactyly associated with tibial hemimelia and in 51 unrelated patients with neural tube defects. Except for two sequence variants in exon 3, no mutations were found in these disease categories. OFF</description><identifier>ISSN: 0340-6717</identifier><identifier>EISSN: 1432-1203</identifier><identifier>DOI: 10.1007/s004390050709</identifier><identifier>PMID: 9600232</identifier><identifier>CODEN: HUGEDQ</identifier><language>eng</language><publisher>Heidelberg: Springer</publisher><subject>Abnormalities, Multiple - genetics ; Base Sequence ; Biological and medical sciences ; Chromosomes, Human, Pair 7 ; Cloning, Molecular ; Diseases of the osteoarticular system ; Exons ; Hedgehog Proteins ; Humans ; Malformations and congenital and or hereditary diseases involving bones. Joint deformations ; Medical sciences ; Molecular Sequence Data ; Polydactyly - genetics ; Polymerase Chain Reaction ; Polymorphism, Single-Stranded Conformational ; Promoter Regions, Genetic ; Proteins - analysis ; Proteins - genetics ; Sacrococcygeal Region - abnormalities ; Sequence Analysis, DNA ; Thumb - abnormalities ; Trans-Activators</subject><ispartof>Human genetics, 1998-04, Vol.102 (4), p.387-392</ispartof><rights>1998 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c383t-be58b9277dfc58dbc8a00b4bc0a3f8645059c6df17b9f33f53a681313e9f8d143</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,777,781,27905,27906</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=2213462$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/9600232$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>VARGAS, F. R</creatorcontrib><creatorcontrib>ROESSLER, E</creatorcontrib><creatorcontrib>CORREIA, P</creatorcontrib><creatorcontrib>FELIX, T</creatorcontrib><creatorcontrib>GEREIGE, R</creatorcontrib><creatorcontrib>CUNNINGHAM, M. L</creatorcontrib><creatorcontrib>CANUN, S</creatorcontrib><creatorcontrib>ANTONARAKIS, S. E</creatorcontrib><creatorcontrib>STRACHAN, T</creatorcontrib><creatorcontrib>TSUI, L.-C</creatorcontrib><creatorcontrib>SCHERER, S. W</creatorcontrib><creatorcontrib>MUENKE, M</creatorcontrib><creatorcontrib>GAUDENZ, K</creatorcontrib><creatorcontrib>BELLONI, E</creatorcontrib><creatorcontrib>WHITEHEAD, A. S</creatorcontrib><creatorcontrib>KIRKE, P. N</creatorcontrib><creatorcontrib>MILLS, J. L</creatorcontrib><creatorcontrib>HOOPER, G</creatorcontrib><creatorcontrib>STEVENSON, R. E</creatorcontrib><creatorcontrib>CORDEIRO, I</creatorcontrib><title>Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly</title><title>Human genetics</title><addtitle>Hum Genet</addtitle><description>The human Sonic Hedgehog gene (SHH) is one of the vertebrate homologs related to the Drosophila segment polarity gene hedgehog. The entire coding and promoter region of the SHH gene, including 2 kb 5' of the transcriptional start site has been screened for mutations in families with autosomal dominant sacral agenesis and autosomal dominant triphalangeal thumb, two conditions previously known to be linked to 7q36. We have also studied the SHH gene in five families with mirror polydactyly associated with tibial hemimelia and in 51 unrelated patients with neural tube defects. Except for two sequence variants in exon 3, no mutations were found in these disease categories. OFF</description><subject>Abnormalities, Multiple - genetics</subject><subject>Base Sequence</subject><subject>Biological and medical sciences</subject><subject>Chromosomes, Human, Pair 7</subject><subject>Cloning, Molecular</subject><subject>Diseases of the osteoarticular system</subject><subject>Exons</subject><subject>Hedgehog Proteins</subject><subject>Humans</subject><subject>Malformations and congenital and or hereditary diseases involving bones. Joint deformations</subject><subject>Medical sciences</subject><subject>Molecular Sequence Data</subject><subject>Polydactyly - genetics</subject><subject>Polymerase Chain Reaction</subject><subject>Polymorphism, Single-Stranded Conformational</subject><subject>Promoter Regions, Genetic</subject><subject>Proteins - analysis</subject><subject>Proteins - genetics</subject><subject>Sacrococcygeal Region - abnormalities</subject><subject>Sequence Analysis, DNA</subject><subject>Thumb - abnormalities</subject><subject>Trans-Activators</subject><issn>0340-6717</issn><issn>1432-1203</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1998</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpVkE1v1DAQhi0EKkvpkSOSD6inBsZ2EtvHqqK0UiUOwDma-CNrlNiLnT3kxk_HtKtKPY0088yjmZeQDww-MwD5pQC0QgN0IEG_IjvWCt4wDuI12YFooeklk2_Ju1J-A7BO8-6MnOkegAu-I3-vI85bCYUmT9e9o_vjgpH-SDEYeufs5PZpoibZECeK0dJDTktaXabZTSHFQkOkBU3GmeLkoquqK7rmcNjjjHFytb9W53j1uL2EnFOmhzRvFs26zdt78sbjXNzFqZ6TX7dff97cNQ_fv93fXD80RiixNqPr1Ki5lNabTtnRKAQY29EACq_6toNOm956JkfthfCdwF4xwYTTXtmayTm5fPLWB_4cXVmHJRTj5nqkS8cySK2UkpxXsHkCTU6lZOeHQw4L5m1gMPxPfHiReOU_nsTHcXH2mT5FXOefTnMsBmefMZpQnjHOmWh7Lv4BWVOJ3g</recordid><startdate>19980401</startdate><enddate>19980401</enddate><creator>VARGAS, F. R</creator><creator>ROESSLER, E</creator><creator>CORREIA, P</creator><creator>FELIX, T</creator><creator>GEREIGE, R</creator><creator>CUNNINGHAM, M. L</creator><creator>CANUN, S</creator><creator>ANTONARAKIS, S. E</creator><creator>STRACHAN, T</creator><creator>TSUI, L.-C</creator><creator>SCHERER, S. W</creator><creator>MUENKE, M</creator><creator>GAUDENZ, K</creator><creator>BELLONI, E</creator><creator>WHITEHEAD, A. S</creator><creator>KIRKE, P. N</creator><creator>MILLS, J. L</creator><creator>HOOPER, G</creator><creator>STEVENSON, R. E</creator><creator>CORDEIRO, I</creator><general>Springer</general><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>7X8</scope></search><sort><creationdate>19980401</creationdate><title>Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly</title><author>VARGAS, F. R ; ROESSLER, E ; CORREIA, P ; FELIX, T ; GEREIGE, R ; CUNNINGHAM, M. L ; CANUN, S ; ANTONARAKIS, S. E ; STRACHAN, T ; TSUI, L.-C ; SCHERER, S. W ; MUENKE, M ; GAUDENZ, K ; BELLONI, E ; WHITEHEAD, A. S ; KIRKE, P. N ; MILLS, J. L ; HOOPER, G ; STEVENSON, R. E ; CORDEIRO, I</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c383t-be58b9277dfc58dbc8a00b4bc0a3f8645059c6df17b9f33f53a681313e9f8d143</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1998</creationdate><topic>Abnormalities, Multiple - genetics</topic><topic>Base Sequence</topic><topic>Biological and medical sciences</topic><topic>Chromosomes, Human, Pair 7</topic><topic>Cloning, Molecular</topic><topic>Diseases of the osteoarticular system</topic><topic>Exons</topic><topic>Hedgehog Proteins</topic><topic>Humans</topic><topic>Malformations and congenital and or hereditary diseases involving bones. Joint deformations</topic><topic>Medical sciences</topic><topic>Molecular Sequence Data</topic><topic>Polydactyly - genetics</topic><topic>Polymerase Chain Reaction</topic><topic>Polymorphism, Single-Stranded Conformational</topic><topic>Promoter Regions, Genetic</topic><topic>Proteins - analysis</topic><topic>Proteins - genetics</topic><topic>Sacrococcygeal Region - abnormalities</topic><topic>Sequence Analysis, DNA</topic><topic>Thumb - abnormalities</topic><topic>Trans-Activators</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>VARGAS, F. R</creatorcontrib><creatorcontrib>ROESSLER, E</creatorcontrib><creatorcontrib>CORREIA, P</creatorcontrib><creatorcontrib>FELIX, T</creatorcontrib><creatorcontrib>GEREIGE, R</creatorcontrib><creatorcontrib>CUNNINGHAM, M. L</creatorcontrib><creatorcontrib>CANUN, S</creatorcontrib><creatorcontrib>ANTONARAKIS, S. E</creatorcontrib><creatorcontrib>STRACHAN, T</creatorcontrib><creatorcontrib>TSUI, L.-C</creatorcontrib><creatorcontrib>SCHERER, S. W</creatorcontrib><creatorcontrib>MUENKE, M</creatorcontrib><creatorcontrib>GAUDENZ, K</creatorcontrib><creatorcontrib>BELLONI, E</creatorcontrib><creatorcontrib>WHITEHEAD, A. S</creatorcontrib><creatorcontrib>KIRKE, P. N</creatorcontrib><creatorcontrib>MILLS, J. L</creatorcontrib><creatorcontrib>HOOPER, G</creatorcontrib><creatorcontrib>STEVENSON, R. E</creatorcontrib><creatorcontrib>CORDEIRO, I</creatorcontrib><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>MEDLINE - Academic</collection><jtitle>Human genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>VARGAS, F. R</au><au>ROESSLER, E</au><au>CORREIA, P</au><au>FELIX, T</au><au>GEREIGE, R</au><au>CUNNINGHAM, M. L</au><au>CANUN, S</au><au>ANTONARAKIS, S. E</au><au>STRACHAN, T</au><au>TSUI, L.-C</au><au>SCHERER, S. W</au><au>MUENKE, M</au><au>GAUDENZ, K</au><au>BELLONI, E</au><au>WHITEHEAD, A. S</au><au>KIRKE, P. N</au><au>MILLS, J. L</au><au>HOOPER, G</au><au>STEVENSON, R. E</au><au>CORDEIRO, I</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly</atitle><jtitle>Human genetics</jtitle><addtitle>Hum Genet</addtitle><date>1998-04-01</date><risdate>1998</risdate><volume>102</volume><issue>4</issue><spage>387</spage><epage>392</epage><pages>387-392</pages><issn>0340-6717</issn><eissn>1432-1203</eissn><coden>HUGEDQ</coden><abstract>The human Sonic Hedgehog gene (SHH) is one of the vertebrate homologs related to the Drosophila segment polarity gene hedgehog. The entire coding and promoter region of the SHH gene, including 2 kb 5' of the transcriptional start site has been screened for mutations in families with autosomal dominant sacral agenesis and autosomal dominant triphalangeal thumb, two conditions previously known to be linked to 7q36. We have also studied the SHH gene in five families with mirror polydactyly associated with tibial hemimelia and in 51 unrelated patients with neural tube defects. Except for two sequence variants in exon 3, no mutations were found in these disease categories. OFF</abstract><cop>Heidelberg</cop><cop>Berlin</cop><cop>New York, NY</cop><pub>Springer</pub><pmid>9600232</pmid><doi>10.1007/s004390050709</doi><tpages>6</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0340-6717 |
| ispartof | Human genetics, 1998-04, Vol.102 (4), p.387-392 |
| issn | 0340-6717 1432-1203 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_79888722 |
| source | MEDLINE; SpringerLink Journals |
| subjects | Abnormalities, Multiple - genetics Base Sequence Biological and medical sciences Chromosomes, Human, Pair 7 Cloning, Molecular Diseases of the osteoarticular system Exons Hedgehog Proteins Humans Malformations and congenital and or hereditary diseases involving bones. Joint deformations Medical sciences Molecular Sequence Data Polydactyly - genetics Polymerase Chain Reaction Polymorphism, Single-Stranded Conformational Promoter Regions, Genetic Proteins - analysis Proteins - genetics Sacrococcygeal Region - abnormalities Sequence Analysis, DNA Thumb - abnormalities Trans-Activators |
| title | Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-19T15%3A11%3A25IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Analysis%20of%20the%20human%20Sonic%20Hedgehog%20coding%20and%20promoter%20regions%20in%20sacral%20agenesis,%20triphalangeal%20thumb,%20and%20mirror%20polydactyly&rft.jtitle=Human%20genetics&rft.au=VARGAS,%20F.%20R&rft.date=1998-04-01&rft.volume=102&rft.issue=4&rft.spage=387&rft.epage=392&rft.pages=387-392&rft.issn=0340-6717&rft.eissn=1432-1203&rft.coden=HUGEDQ&rft_id=info:doi/10.1007/s004390050709&rft_dat=%3Cproquest_cross%3E79888722%3C/proquest_cross%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=79888722&rft_id=info:pmid/9600232&rfr_iscdi=true |