SALL3, a New Member of the Human spalt -like Gene Family, Maps to 18q23
Identifieur interne : 000628 ( Main/Corpus ); précédent : 000627; suivant : 000629SALL3, a New Member of the Human spalt -like Gene Family, Maps to 18q23
Auteurs : Jürgen Kohlhase ; Susanna Hausmann ; Goran Stojmenovic ; Christa Dixkens ; Karin Bink ; Walter Schulz-Schaeffer ; Mariele Altmann ; Wolfgang EngelSource :
- Genomics [ 0888-7543 ] ; 1999.
Abstract
spalt (sal) of Drosophila melanogaster is an important developmental regulator gene and encodes a zinc finger protein of unusual but characteristic structure. Two human sal-like genes have been isolated so far, SALL1 on chromosome 16q12.1 and SALL2 on chromosome 14q11.1–q12.1. Truncating mutations of SALL1 have been shown to cause Townes–Brocks syndrome and are thought to result in SALL1 haploinsufficiency. Sequence comparison of SALL1 to the related genes Msal in mouse and Xsal-1 in Xenopus laevis suggested that SALL1 was not the human orthologue of Msal and Xsal-1. By database searching and genomic cloning, we isolated an EST and a corresponding human cosmid clone, which contain coding sequence of a human gene highly similar to mouse Msal. This gene, named SALL3, was found to be expressed in different regions of human fetal brain and in different adult human tissues. The chromosomal localization of SALL3 at 18q23 suggests that haploinsufficiency of this gene might contribute to the phenotype of patients with 18q deletion syndrome.
Url:
DOI: 10.1006/geno.1999.6005
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sort="Stojmenovic, Goran" uniqKey="Stojmenovic G" first="Goran" last="Stojmenovic">Goran Stojmenovic</name><affiliation><mods:affiliation>Institut für Humangenetik, Universität Göttingen, Heinrich-Düker-Weg 12, D-37073, Göttingen, Germany</mods:affiliation></affiliation></author><author><name sortKey="Dixkens, Christa" sort="Dixkens, Christa" uniqKey="Dixkens C" first="Christa" last="Dixkens">Christa Dixkens</name><affiliation><mods:affiliation>Institut für Humangenetik, Universität Göttingen, Heinrich-Düker-Weg 12, D-37073, Göttingen, Germany</mods:affiliation></affiliation></author><author><name sortKey="Bink, Karin" sort="Bink, Karin" uniqKey="Bink K" first="Karin" last="Bink">Karin Bink</name><affiliation><mods:affiliation>Institut für Humangenetik, Universität Göttingen, Heinrich-Düker-Weg 12, D-37073, Göttingen, Germany</mods:affiliation></affiliation></author><author><name sortKey="Schulz Schaeffer, Walter" sort="Schulz Schaeffer, Walter" uniqKey="Schulz Schaeffer W" first="Walter" last="Schulz-Schaeffer">Walter Schulz-Schaeffer</name><affiliation><mods:affiliation>Abteilung Neuropathologie, Universität Göttingen, Robert-Koch-Strasse 40, D-37075, Göttingen, Germany</mods:affiliation></affiliation></author><author><name sortKey="Altmann, Mariele" sort="Altmann, Mariele" uniqKey="Altmann M" first="Mariele" last="Altmann">Mariele Altmann</name><affiliation><mods:affiliation>Institut für Humangenetik, Universität Göttingen, Heinrich-Düker-Weg 12, D-37073, Göttingen, Germany</mods:affiliation></affiliation></author><author><name sortKey="Engel, Wolfgang" sort="Engel, Wolfgang" uniqKey="Engel W" first="Wolfgang" last="Engel">Wolfgang Engel</name><affiliation><mods:affiliation>Institut für Humangenetik, Universität Göttingen, Heinrich-Düker-Weg 12, D-37073, Göttingen, Germany</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">Genomics</title><title level="j" type="abbrev">YGENO</title><idno 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Two human sal-like genes have been isolated so far, SALL1 on chromosome 16q12.1 and SALL2 on chromosome 14q11.1–q12.1. Truncating mutations of SALL1 have been shown to cause Townes–Brocks syndrome and are thought to result in SALL1 haploinsufficiency. Sequence comparison of SALL1 to the related genes Msal in mouse and Xsal-1 in Xenopus laevis suggested that SALL1 was not the human orthologue of Msal and Xsal-1. By database searching and genomic cloning, we isolated an EST and a corresponding human cosmid clone, which contain coding sequence of a human gene highly similar to mouse Msal. This gene, named SALL3, was found to be expressed in different regions of human fetal brain and in different adult human tissues. The chromosomal localization of SALL3 at 18q23 suggests that haploinsufficiency of this gene might contribute to the phenotype of patients with 18q deletion syndrome.</div></front></TEI><istex><corpusName>elsevier</corpusName><author><json:item><name>Jürgen Kohlhase</name><affiliations><json:string>Institut für Humangenetik, Universität Göttingen, Heinrich-Düker-Weg 12, D-37073, Göttingen, Germany</json:string></affiliations></json:item><json:item><name>Susanna Hausmann</name><affiliations><json:string>Institut für Humangenetik, Universität Göttingen, Heinrich-Düker-Weg 12, D-37073, Göttingen, Germany</json:string></affiliations></json:item><json:item><name>Goran Stojmenovic</name><affiliations><json:string>Institut für Humangenetik, Universität Göttingen, Heinrich-Düker-Weg 12, D-37073, Göttingen, Germany</json:string></affiliations></json:item><json:item><name>Christa Dixkens</name><affiliations><json:string>Institut für Humangenetik, Universität Göttingen, Heinrich-Düker-Weg 12, D-37073, Göttingen, Germany</json:string></affiliations></json:item><json:item><name>Karin Bink</name><affiliations><json:string>Institut für Humangenetik, Universität Göttingen, Heinrich-Düker-Weg 12, D-37073, Göttingen, Germany</json:string></affiliations></json:item><json:item><name>Walter Schulz-Schaeffer</name><affiliations><json:string>Abteilung Neuropathologie, Universität Göttingen, Robert-Koch-Strasse 40, D-37075, Göttingen, Germany</json:string></affiliations></json:item><json:item><name>Mariele Altmann</name><affiliations><json:string>Institut für Humangenetik, Universität Göttingen, Heinrich-Düker-Weg 12, D-37073, Göttingen, Germany</json:string></affiliations></json:item><json:item><name>Wolfgang Engel</name><affiliations><json:string>Institut für Humangenetik, Universität Göttingen, Heinrich-Düker-Weg 12, D-37073, Göttingen, Germany</json:string></affiliations></json:item></author><language><json:string>eng</json:string></language><abstract>spalt (sal) of Drosophila melanogaster is an important developmental regulator gene and encodes a zinc finger protein of unusual but characteristic structure. Two human sal-like genes have been isolated so far, SALL1 on chromosome 16q12.1 and SALL2 on chromosome 14q11.1–q12.1. Truncating mutations of SALL1 have been shown to cause Townes–Brocks syndrome and are thought to result in SALL1 haploinsufficiency. Sequence comparison of SALL1 to the related genes Msal in mouse and Xsal-1 in Xenopus laevis suggested that SALL1 was not the human orthologue of Msal and Xsal-1. By database searching and genomic cloning, we isolated an EST and a corresponding human cosmid clone, which contain coding sequence of a human gene highly similar to mouse Msal. This gene, named SALL3, was found to be expressed in different regions of human fetal brain and in different adult human tissues. The chromosomal localization of SALL3 at 18q23 suggests that haploinsufficiency of this gene might contribute to the phenotype of patients with 18q deletion syndrome.</abstract><qualityIndicators><score>6.462</score><pdfVersion>1.2</pdfVersion><pdfPageSize>548 x 730 pts</pdfPageSize><refBibsNative>true</refBibsNative><keywordCount>0</keywordCount><abstractCharCount>1048</abstractCharCount><pdfWordCount>4518</pdfWordCount><pdfCharCount>26941</pdfCharCount><pdfPageCount>7</pdfPageCount><abstractWordCount>162</abstractWordCount></qualityIndicators><title>SALL3, a New Member of the Human spalt -like Gene Family, Maps to 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Germany</affiliation></author><author><persName><forename type="first">Goran</forename><surname>Stojmenovic</surname></persName><affiliation>Institut für Humangenetik, Universität Göttingen, Heinrich-Düker-Weg 12, D-37073, Göttingen, Germany</affiliation></author><author><persName><forename type="first">Christa</forename><surname>Dixkens</surname></persName><affiliation>Institut für Humangenetik, Universität Göttingen, Heinrich-Düker-Weg 12, D-37073, Göttingen, Germany</affiliation></author><author><persName><forename type="first">Karin</forename><surname>Bink</surname></persName><affiliation>Institut für Humangenetik, Universität Göttingen, Heinrich-Düker-Weg 12, D-37073, Göttingen, Germany</affiliation></author><author><persName><forename type="first">Walter</forename><surname>Schulz-Schaeffer</surname></persName><affiliation>Abteilung Neuropathologie, Universität Göttingen, Robert-Koch-Strasse 40, D-37075, Göttingen, Germany</affiliation></author><author><persName><forename type="first">Mariele</forename><surname>Altmann</surname></persName><affiliation>Institut für Humangenetik, Universität Göttingen, Heinrich-Düker-Weg 12, D-37073, Göttingen, Germany</affiliation></author><author><persName><forename type="first">Wolfgang</forename><surname>Engel</surname></persName><affiliation>Institut für Humangenetik, Universität Göttingen, Heinrich-Düker-Weg 12, D-37073, Göttingen, Germany</affiliation></author></analytic><monogr><title level="j">Genomics</title><title level="j" type="abbrev">YGENO</title><idno type="pISSN">0888-7543</idno><idno type="PII">S0888-7543(00)X0038-9</idno><imprint><publisher>ELSEVIER</publisher><date type="published" when="1999"></date><biblScope unit="volume">62</biblScope><biblScope unit="issue">2</biblScope><biblScope unit="page" from="216">216</biblScope><biblScope unit="page" to="222">222</biblScope></imprint></monogr><idno type="istex">FA99C3ED317497E4954D4B8F5D41B715E69EF98B</idno><idno type="DOI">10.1006/geno.1999.6005</idno><idno type="PII">S0888-7543(99)96005-6</idno></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>1999</date></creation><langUsage><language ident="en">en</language></langUsage><abstract xml:lang="en"><p>spalt (sal) of Drosophila melanogaster is an important developmental regulator gene and encodes a zinc finger protein of unusual but characteristic structure. Two human sal-like genes have been isolated so far, SALL1 on chromosome 16q12.1 and SALL2 on chromosome 14q11.1–q12.1. Truncating mutations of SALL1 have been shown to cause Townes–Brocks syndrome and are thought to result in SALL1 haploinsufficiency. Sequence comparison of SALL1 to the related genes Msal in mouse and Xsal-1 in Xenopus laevis suggested that SALL1 was not the human orthologue of Msal and Xsal-1. By database searching and genomic cloning, we isolated an EST and a corresponding human cosmid clone, which contain coding sequence of a human gene highly similar to mouse Msal. This gene, named SALL3, was found to be expressed in different regions of human fetal brain and in different adult human tissues. The chromosomal localization of SALL3 at 18q23 suggests that haploinsufficiency of this gene might contribute to the phenotype of patients with 18q deletion syndrome.</p></abstract></profileDesc><revisionDesc><change when="1999-09-22">Registration</change><change when="1999">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/FA99C3ED317497E4954D4B8F5D41B715E69EF98B/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Elsevier, elements deleted: tail"><istex:xmlDeclaration>version="1.0" encoding="utf-8"</istex:xmlDeclaration><istex:docType PUBLIC="-//ES//DTD journal article DTD version 4.5.2//EN//XML" URI="art452.dtd" name="istex:docType"></istex:docType><istex:document><converted-article version="4.5.2" docsubtype="fla" xml:lang="en"><item-info><jid>YGENO</jid><aid>96005</aid><ce:pii>S0888-7543(99)96005-6</ce:pii><ce:doi>10.1006/geno.1999.6005</ce:doi><ce:copyright type="full-transfer" year="1999">Academic Press</ce:copyright></item-info><head><ce:article-footnote><ce:label>☆</ce:label><ce:note-para>Sequence data from this article have been deposited with the EMBL/GenBank Data Libraries under Accession No. AJ007421.</ce:note-para></ce:article-footnote><ce:dochead><ce:textfn>Regular Article</ce:textfn></ce:dochead><ce:title><ce:italic>SALL3,</ce:italic> a New Member of the Human <ce:italic>spalt</ce:italic>-like Gene Family, Maps to 18q23</ce:title><ce:author-group><ce:author><ce:given-name>Jürgen</ce:given-name><ce:surname>Kohlhase</ce:surname><ce:cross-ref refid="A1"><ce:sup>a</ce:sup></ce:cross-ref><ce:cross-ref refid="FN1"><ce:sup>1</ce:sup></ce:cross-ref></ce:author><ce:author><ce:given-name>Susanna</ce:given-name><ce:surname>Hausmann</ce:surname><ce:cross-ref refid="A1"><ce:sup>a</ce:sup></ce:cross-ref></ce:author><ce:author><ce:given-name>Goran</ce:given-name><ce:surname>Stojmenovic</ce:surname><ce:cross-ref refid="A1"><ce:sup>a</ce:sup></ce:cross-ref></ce:author><ce:author><ce:given-name>Christa</ce:given-name><ce:surname>Dixkens</ce:surname><ce:cross-ref refid="A1"><ce:sup>a</ce:sup></ce:cross-ref></ce:author><ce:author><ce:given-name>Karin</ce:given-name><ce:surname>Bink</ce:surname><ce:cross-ref refid="A1"><ce:sup>a</ce:sup></ce:cross-ref></ce:author><ce:author><ce:given-name>Walter</ce:given-name><ce:surname>Schulz-Schaeffer</ce:surname><ce:cross-ref refid="A2"><ce:sup>b</ce:sup></ce:cross-ref></ce:author><ce:author><ce:given-name>Mariele</ce:given-name><ce:surname>Altmann</ce:surname><ce:cross-ref refid="A1"><ce:sup>a</ce:sup></ce:cross-ref></ce:author><ce:author><ce:given-name>Wolfgang</ce:given-name><ce:surname>Engel</ce:surname><ce:cross-ref refid="A1"><ce:sup>a</ce:sup></ce:cross-ref></ce:author><ce:affiliation id="A1"><ce:label>a</ce:label><ce:textfn>Institut für Humangenetik, Universität Göttingen, Heinrich-Düker-Weg 12, D-37073, Göttingen, Germany</ce:textfn></ce:affiliation><ce:affiliation id="A2"><ce:label>b</ce:label><ce:textfn>Abteilung Neuropathologie, Universität Göttingen, Robert-Koch-Strasse 40, D-37075, Göttingen, Germany</ce:textfn></ce:affiliation><ce:footnote id="FN1"><ce:label>1</ce:label><ce:note-para>To whom correspondence should be addressed. Telephone: +49-551-39-9302. Fax: +49-551-39-9303. E-mail: jkohlha@gwdg.de.</ce:note-para></ce:footnote></ce:author-group><ce:date-received day="18" month="6" year="1999"></ce:date-received><ce:date-accepted day="22" month="9" year="1999"></ce:date-accepted><ce:abstract><ce:section-title>Abstract</ce:section-title><ce:abstract-sec><ce:simple-para><ce:italic>spalt</ce:italic> (<ce:italic>sal</ce:italic>) of <ce:italic>Drosophila melanogaster</ce:italic> is an important developmental regulator gene and encodes a zinc finger protein of unusual but characteristic structure. Two human <ce:italic>sal</ce:italic>-like genes have been isolated so far, <ce:italic>SALL1</ce:italic> on chromosome 16q12.1 and <ce:italic>SALL2</ce:italic> on chromosome 14q11.1–q12.1. Truncating mutations of <ce:italic>SALL1</ce:italic> have been shown to cause Townes–Brocks syndrome and are thought to result in <ce:italic>SALL1</ce:italic> haploinsufficiency. Sequence comparison of <ce:italic>SALL1</ce:italic> to the related genes <ce:italic>Msal</ce:italic> in mouse and <ce:italic>Xsal-1</ce:italic> in <ce:italic>Xenopus laevis</ce:italic> suggested that <ce:italic>SALL1</ce:italic> was not the human orthologue of <ce:italic>Msal</ce:italic> and <ce:italic>Xsal-1.</ce:italic> By database searching and genomic cloning, we isolated an EST and a corresponding human cosmid clone, which contain coding sequence of a human gene highly similar to mouse <ce:italic>Msal.</ce:italic> This gene, named <ce:italic>SALL3,</ce:italic> was found to be expressed in different regions of human fetal brain and in different adult human tissues. The chromosomal localization of <ce:italic>SALL3</ce:italic> at 18q23 suggests that haploinsufficiency of this gene might contribute to the phenotype of patients with 18q deletion syndrome.</ce:simple-para></ce:abstract-sec></ce:abstract></head></converted-article></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>SALL3, a New Member of the Human spalt -like Gene Family, Maps to 18q23</title></titleInfo><titleInfo type="alternative" lang="en" contentType="CDATA"><title>a New Member of the Human</title></titleInfo><name type="personal"><namePart type="given">Jürgen</namePart><namePart type="family">Kohlhase</namePart><affiliation>Institut für Humangenetik, Universität Göttingen, Heinrich-Düker-Weg 12, D-37073, Göttingen, Germany</affiliation><description>To whom correspondence should be addressed. Telephone: +49-551-39-9302. Fax: +49-551-39-9303. E-mail: jkohlha@gwdg.de.</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Susanna</namePart><namePart type="family">Hausmann</namePart><affiliation>Institut für Humangenetik, Universität Göttingen, Heinrich-Düker-Weg 12, D-37073, Göttingen, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Goran</namePart><namePart type="family">Stojmenovic</namePart><affiliation>Institut für Humangenetik, Universität Göttingen, Heinrich-Düker-Weg 12, D-37073, Göttingen, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Christa</namePart><namePart type="family">Dixkens</namePart><affiliation>Institut für Humangenetik, Universität Göttingen, Heinrich-Düker-Weg 12, D-37073, Göttingen, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Karin</namePart><namePart type="family">Bink</namePart><affiliation>Institut für Humangenetik, Universität Göttingen, Heinrich-Düker-Weg 12, D-37073, Göttingen, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Walter</namePart><namePart type="family">Schulz-Schaeffer</namePart><affiliation>Abteilung Neuropathologie, Universität Göttingen, Robert-Koch-Strasse 40, D-37075, Göttingen, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Mariele</namePart><namePart type="family">Altmann</namePart><affiliation>Institut für Humangenetik, Universität Göttingen, Heinrich-Düker-Weg 12, D-37073, Göttingen, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Wolfgang</namePart><namePart type="family">Engel</namePart><affiliation>Institut für Humangenetik, Universität Göttingen, Heinrich-Düker-Weg 12, D-37073, Göttingen, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="research-article" displayLabel="Full-length article"></genre><originInfo><publisher>ELSEVIER</publisher><dateIssued encoding="w3cdtf">1999</dateIssued><dateValid encoding="w3cdtf">1999-09-22</dateValid><copyrightDate encoding="w3cdtf">1999</copyrightDate></originInfo><language><languageTerm type="code" authority="iso639-2b">eng</languageTerm><languageTerm type="code" authority="rfc3066">en</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType></physicalDescription><abstract lang="en">spalt (sal) of Drosophila melanogaster is an important developmental regulator gene and encodes a zinc finger protein of unusual but characteristic structure. Two human sal-like genes have been isolated so far, SALL1 on chromosome 16q12.1 and SALL2 on chromosome 14q11.1–q12.1. Truncating mutations of SALL1 have been shown to cause Townes–Brocks syndrome and are thought to result in SALL1 haploinsufficiency. Sequence comparison of SALL1 to the related genes Msal in mouse and Xsal-1 in Xenopus laevis suggested that SALL1 was not the human orthologue of Msal and Xsal-1. By database searching and genomic cloning, we isolated an EST and a corresponding human cosmid clone, which contain coding sequence of a human gene highly similar to mouse Msal. This gene, named SALL3, was found to be expressed in different regions of human fetal brain and in different adult human tissues. The chromosomal localization of SALL3 at 18q23 suggests that haploinsufficiency of this gene might contribute to the phenotype of patients with 18q deletion syndrome.</abstract><note>Sequence data from this article have been deposited with the EMBL/GenBank Data Libraries under Accession No. AJ007421.</note><note type="content">Section title: Regular Article</note><relatedItem type="host"><titleInfo><title>Genomics</title></titleInfo><titleInfo type="abbreviated"><title>YGENO</title></titleInfo><genre type="Journal">journal</genre><originInfo><dateIssued encoding="w3cdtf">19991201</dateIssued></originInfo><identifier type="ISSN">0888-7543</identifier><identifier type="PII">S0888-7543(00)X0038-9</identifier><part><date>19991201</date><detail type="volume"><number>62</number><caption>vol.</caption></detail><detail type="issue"><number>2</number><caption>no.</caption></detail><extent unit="issue pages"><start>129</start><end>323</end></extent><extent unit="pages"><start>216</start><end>222</end></extent></part></relatedItem><identifier type="istex">FA99C3ED317497E4954D4B8F5D41B715E69EF98B</identifier><identifier type="DOI">10.1006/geno.1999.6005</identifier><identifier type="PII">S0888-7543(99)96005-6</identifier><accessCondition type="use and reproduction" contentType="">© 1999Academic Press</accessCondition><recordInfo><recordContentSource>ELSEVIER</recordContentSource><recordOrigin>Academic Press, ©1999</recordOrigin></recordInfo></mods></metadata><enrichments><istex:catWosTEI uri="https://api.istex.fr/document/FA99C3ED317497E4954D4B8F5D41B715E69EF98B/enrichments/catWos"><teiHeader><profileDesc><textClass><classCode scheme="WOS">BIOTECHNOLOGY & APPLIED MICROBIOLOGY</classCode><classCode scheme="WOS">GENETICS & HEREDITY</classCode></textClass></profileDesc></teiHeader></istex:catWosTEI></enrichments><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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