Current status of human chromosome 14
Identifieur interne : 005956 ( Istex/Corpus ); précédent : 005955; suivant : 005957Current status of human chromosome 14
Auteurs : D. Kamnasaran ; D W CoxSource :
- Journal of Medical Genetics [ 0022-2593 ] ; 2002-02.
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- KwdEn :
Abstract
Over the past three decades, extensive genetic, physical, transcript, and sequence maps have assisted in the mapping of over 30 genetic diseases and in the identification of over 550 genes on human chromosome 14. Additional genetic disorders were assigned to chromosome 14 by studying either constitutional or acquired chromosome aberrations of affected subjects. Studies of benign and malignant tumours by karyotype analyses and by allelotyping with a panel of polymorphic genetic markers have further suggested the presence of several tumour suppressor loci on chromosome 14. The search for disease genes on human chromosome 14 has also been achieved by exploiting the human-mouse comparative maps. Research on uniparental disomy and on the search for imprinted genes has supported evidence of epigenetic inheritance as a result of imprinting on human chromosome 14. This review focuses on the current developments on human chromosome 14 with respect to genetic maps, physical maps, transcript maps, sequence maps, genes, diseases, mouse-human comparative maps, and imprinting.
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DOI: 10.1136/jmg.39.2.81
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ISTEX:BE54F1528AACB1496332C9722FFDAA5A6593502CLe document en format XML
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Kamnasaran</name><affiliation><mods:affiliation>Department of Medical Genetics, University of Alberta, Edmonton, Alberta T6G 2H7, Canada</mods:affiliation></affiliation></author><author><name sortKey="Cox, D W" sort="Cox, D W" uniqKey="Cox D" first="D W" last="Cox">D W Cox</name><affiliation><mods:affiliation>Department of Medical Genetics, University of Alberta, Edmonton, Alberta T6G 2H7, Canada</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">Journal of Medical Genetics</title><title level="j" type="abbrev">J Med Genet</title><idno type="ISSN">0022-2593</idno><idno type="eISSN">1468-6244</idno><imprint><publisher>BMJ Publishing Group Ltd</publisher><date type="published" when="2002-02">2002-02</date><biblScope unit="volume">39</biblScope><biblScope unit="issue">2</biblScope><biblScope unit="page" from="81">81</biblScope></imprint><idno type="ISSN">0022-2593</idno></series><idno type="istex">BE54F1528AACB1496332C9722FFDAA5A6593502C</idno><idno type="DOI">10.1136/jmg.39.2.81</idno><idno type="href">jmedgenet-39-81.pdf</idno><idno type="PMID">11836355</idno><idno type="local">0390081</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0022-2593</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>EST, expressed sequence tag</term><term>LOH, loss of heterozygosity</term><term>OLA, oligonucleotide ligation assay</term><term>SNP, single nucleotide polymorphism</term><term>STRP, short tandem repeat polymorphism</term><term>STS, sequence tagged site</term><term>TS, tumour suppressor</term><term>cancer</term><term>chromosome 14</term><term>comparative maps</term><term>imprinting</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Over the past three decades, extensive genetic, physical, transcript, and sequence maps have assisted in the mapping of over 30 genetic diseases and in the identification of over 550 genes on human chromosome 14. 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site</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>EST, expressed sequence tag</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>LOH, loss of heterozygosity</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>TS, tumour suppressor</value></json:item></subject><language><json:string>eng</json:string></language><originalGenre><json:string>other</json:string></originalGenre><abstract>Over the past three decades, extensive genetic, physical, transcript, and sequence maps have assisted in the mapping of over 30 genetic diseases and in the identification of over 550 genes on human chromosome 14. Additional genetic disorders were assigned to chromosome 14 by studying either constitutional or acquired chromosome aberrations of affected subjects. Studies of benign and malignant tumours by karyotype analyses and by allelotyping with a panel of polymorphic genetic markers have further suggested the presence of several tumour suppressor loci on chromosome 14. The search for disease genes on human chromosome 14 has also been achieved by exploiting the human-mouse comparative maps. Research on uniparental disomy and on the search for imprinted genes has supported evidence of epigenetic inheritance as a result of imprinting on human chromosome 14. This review focuses on the current developments on human chromosome 14 with respect to genetic maps, physical maps, transcript maps, sequence maps, genes, diseases, mouse-human comparative maps, and imprinting.</abstract><qualityIndicators><score>6.908</score><pdfVersion>1.1</pdfVersion><pdfPageSize>612 x 792 pts (letter)</pdfPageSize><refBibsNative>false</refBibsNative><keywordCount>13</keywordCount><abstractCharCount>1079</abstractCharCount><pdfWordCount>8988</pdfWordCount><pdfCharCount>59822</pdfCharCount><pdfPageCount>10</pdfPageCount><abstractWordCount>159</abstractWordCount></qualityIndicators><title>Current status of human chromosome 14</title><pmid><json:string>11836355</json:string></pmid><genre><json:string>other</json:string></genre><host><title>Journal of Medical Genetics</title><language><json:string>unknown</json:string></language><issn><json:string>0022-2593</json:string></issn><eissn><json:string>1468-6244</json:string></eissn><volume>39</volume><issue>2</issue><pages><first>81</first></pages><genre><json:string>journal</json:string></genre></host><categories><wos><json:string>science</json:string><json:string>genetics & heredity</json:string></wos><scienceMetrix><json:string>health sciences</json:string><json:string>biomedical research</json:string><json:string>genetics & heredity</json:string></scienceMetrix><inist><json:string>sciences appliquees, technologies et medecines</json:string><json:string>sciences biologiques et medicales</json:string><json:string>sciences biologiques fondamentales et appliquees. psychologie</json:string></inist></categories><publicationDate>2002</publicationDate><copyrightDate>2002</copyrightDate><doi><json:string>10.1136/jmg.39.2.81</json:string></doi><id>BE54F1528AACB1496332C9722FFDAA5A6593502C</id><score>1</score><fulltext><json:item><extension>pdf</extension><original>true</original><mimetype>application/pdf</mimetype><uri>https://api.istex.fr/document/BE54F1528AACB1496332C9722FFDAA5A6593502C/fulltext/pdf</uri></json:item><json:item><extension>zip</extension><original>false</original><mimetype>application/zip</mimetype><uri>https://api.istex.fr/document/BE54F1528AACB1496332C9722FFDAA5A6593502C/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/BE54F1528AACB1496332C9722FFDAA5A6593502C/fulltext/tei"><teiHeader><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">Current status of human chromosome 14</title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>BMJ Publishing Group Ltd</publisher><availability><p>Copyright 2002 Journal of Medical Genetics</p></availability><date>2002-02-01</date></publicationStmt><notesStmt><note>Correspondence to:
Dr D W Cox, 8-39 Medical Sciences Building, University of Alberta Edmonton, Alberta T6G 2H7, Canada;
diane.cox@ualberta.ca</note></notesStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">Current status of human chromosome 14</title><author xml:id="author-1"><persName><forename type="first">D</forename><surname>Kamnasaran</surname></persName><affiliation>Department of Medical Genetics, University of Alberta, Edmonton, Alberta T6G 2H7, Canada</affiliation></author><author xml:id="author-2"><persName><forename type="first">D W</forename><surname>Cox</surname></persName><affiliation>Department of Medical Genetics, University of Alberta, Edmonton, Alberta T6G 2H7, Canada</affiliation></author></analytic><monogr><title level="j">Journal of Medical Genetics</title><title level="j" type="abbrev">J Med Genet</title><idno type="pISSN">0022-2593</idno><idno type="eISSN">1468-6244</idno><imprint><publisher>BMJ Publishing Group Ltd</publisher><date type="published" when="2002-02"></date><biblScope unit="volume">39</biblScope><biblScope unit="issue">2</biblScope><biblScope unit="page" from="81">81</biblScope></imprint></monogr><idno type="istex">BE54F1528AACB1496332C9722FFDAA5A6593502C</idno><idno type="DOI">10.1136/jmg.39.2.81</idno><idno type="href">jmedgenet-39-81.pdf</idno><idno type="PMID">11836355</idno><idno type="local">0390081</idno></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>2002-02-01</date></creation><langUsage><language ident="en">en</language></langUsage><abstract xml:lang="en"><p>Over the past three decades, extensive genetic, physical, transcript, and sequence maps have assisted in the mapping of over 30 genetic diseases and in the identification of over 550 genes on human chromosome 14. Additional genetic disorders were assigned to chromosome 14 by studying either constitutional or acquired chromosome aberrations of affected subjects. Studies of benign and malignant tumours by karyotype analyses and by allelotyping with a panel of polymorphic genetic markers have further suggested the presence of several tumour suppressor loci on chromosome 14. The search for disease genes on human chromosome 14 has also been achieved by exploiting the human-mouse comparative maps. Research on uniparental disomy and on the search for imprinted genes has supported evidence of epigenetic inheritance as a result of imprinting on human chromosome 14. This review focuses on the current developments on human chromosome 14 with respect to genetic maps, physical maps, transcript maps, sequence maps, genes, diseases, mouse-human comparative maps, and imprinting.</p></abstract><textClass><keywords scheme="keyword"><list><head>hwp-journal-coll</head><item><term>Clinical genetics</term></item></list></keywords></textClass><textClass><keywords scheme="keyword"><list><head>hwp-journal-coll</head><item><term>Molecular genetics</term></item></list></keywords></textClass><textClass xml:lang="en"><keywords scheme="keyword"><list><head>KWD</head><item><term>chromosome 14</term></item><item><term>imprinting</term></item><item><term>cancer</term></item><item><term>comparative maps</term></item></list></keywords></textClass><textClass xml:lang="en"><keywords scheme="keyword"><list><head>ABR</head><item><term>STRP, short tandem repeat polymorphism</term></item><item><term>OLA, oligonucleotide ligation assay</term></item><item><term>SNP, single nucleotide polymorphism</term></item><item><term>STS, sequence tagged site</term></item><item><term>EST, expressed sequence tag</term></item><item><term>LOH, loss of heterozygosity</term></item><item><term>TS, tumour suppressor</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="2002-02-01">Created</change><change when="2002-02">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><extension>txt</extension><original>false</original><mimetype>text/plain</mimetype><uri>https://api.istex.fr/document/BE54F1528AACB1496332C9722FFDAA5A6593502C/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="corpus bmj" wicri:toSee="no header"><istex:xmlDeclaration>version="1.0" encoding="UTF-8" standalone="no"</istex:xmlDeclaration><istex:docType PUBLIC="-//NLM//DTD Journal Archiving and Interchange DTD v2.3 20070202//EN" URI="archivearticle.dtd" name="istex:docType"></istex:docType><istex:document><article xml:lang="en" article-type="other"><front><journal-meta><journal-id journal-id-type="hwp">jmedgenet</journal-id><journal-id journal-id-type="nlm-ta">J Med Genet</journal-id><journal-title>Journal of Medical Genetics</journal-title><abbrev-journal-title abbrev-type="publisher">J Med Genet</abbrev-journal-title><issn pub-type="ppub">0022-2593</issn><issn pub-type="epub">1468-6244</issn><publisher><publisher-name>BMJ Publishing Group Ltd</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="other">0390081</article-id><article-id pub-id-type="other">jmedgenet;39/2/81</article-id><article-id pub-id-type="doi">10.1136/jmg.39.2.81</article-id><article-id pub-id-type="pmid">11836355</article-id><article-id pub-id-type="other">81</article-id><article-id pub-id-type="other">jmg.39.2.81</article-id><article-categories><subj-group subj-group-type="heading"><subject content-type="original">Review article</subject></subj-group><subj-group subj-group-type="hwp-journal-coll"><subject>Clinical genetics</subject></subj-group><subj-group subj-group-type="hwp-journal-coll"><subject>Molecular genetics</subject></subj-group></article-categories><title-group><article-title>Current status of human chromosome 14</article-title></title-group><contrib-group><contrib contrib-type="author" xlink:type="simple"><name name-style="western"><surname>Kamnasaran</surname><given-names>D</given-names></name><xref rid="AFF1"></xref></contrib><contrib contrib-type="author" xlink:type="simple"><name name-style="western"><surname>Cox</surname><given-names>D W</given-names></name><xref rid="AFF1"></xref></contrib><aff id="AFF1">Department of Medical Genetics, University of Alberta, Edmonton, Alberta T6G 2H7, Canada</aff></contrib-group><author-notes><corresp>Correspondence to:
Dr D W Cox, 8-39 Medical Sciences Building, University of Alberta Edmonton, Alberta T6G 2H7, Canada;
<ext-link xlink:href="diane.cox@ualberta.ca" ext-link-type="email" xlink:type="simple">diane.cox@ualberta.ca</ext-link></corresp></author-notes><pub-date pub-type="ppub"><month>2</month><year>2002</year></pub-date><pub-date pub-type="epub"><day>1</day><month>2</month><year>2002</year></pub-date><volume>39</volume><volume-id pub-id-type="other">39</volume-id><volume-id pub-id-type="other">39</volume-id><issue>2</issue><issue-id pub-id-type="other">jmedgenet;39/2</issue-id><issue-id pub-id-type="other">2</issue-id><issue-id pub-id-type="other">39/2</issue-id><fpage>81</fpage><permissions><copyright-statement>Copyright 2002 Journal of Medical Genetics</copyright-statement><copyright-year>2002</copyright-year></permissions><self-uri content-type="pdf" xlink:role="full-text" xlink:href="jmedgenet-39-81.pdf"></self-uri><abstract xml:lang="en"><p>Over the past three decades, extensive genetic, physical, transcript, and sequence maps have assisted in the mapping of over 30 genetic diseases and in the identification of over 550 genes on human chromosome 14. Additional genetic disorders were assigned to chromosome 14 by studying either constitutional or acquired chromosome aberrations of affected subjects. Studies of benign and malignant tumours by karyotype analyses and by allelotyping with a panel of polymorphic genetic markers have further suggested the presence of several tumour suppressor loci on chromosome 14. The search for disease genes on human chromosome 14 has also been achieved by exploiting the human-mouse comparative maps. Research on uniparental disomy and on the search for imprinted genes has supported evidence of epigenetic inheritance as a result of imprinting on human chromosome 14. This review focuses on the current developments on human chromosome 14 with respect to genetic maps, physical maps, transcript maps, sequence maps, genes, diseases, mouse-human comparative maps, and imprinting.</p></abstract><kwd-group kwd-group-type="KWD" xml:lang="en"><kwd>chromosome 14</kwd><kwd>imprinting</kwd><kwd>cancer</kwd><kwd>comparative maps</kwd></kwd-group><kwd-group kwd-group-type="ABR" xml:lang="en"><kwd>STRP, short tandem repeat polymorphism</kwd><kwd>OLA, oligonucleotide ligation assay</kwd><kwd>SNP, single nucleotide polymorphism</kwd><kwd>STS, sequence tagged site</kwd><kwd>EST, expressed sequence tag</kwd><kwd>LOH, loss of heterozygosity</kwd><kwd>TS, tumour suppressor</kwd></kwd-group></article-meta></front></article></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Current status of human chromosome 14</title></titleInfo><titleInfo type="alternative" lang="en" contentType="CDATA"><title>Current status of human chromosome 14</title></titleInfo><name type="personal"><namePart type="given">D</namePart><namePart type="family">Kamnasaran</namePart><affiliation>Department of Medical Genetics, University of Alberta, Edmonton, Alberta T6G 2H7, Canada</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">D W</namePart><namePart type="family">Cox</namePart><affiliation>Department of Medical Genetics, University of Alberta, Edmonton, Alberta T6G 2H7, Canada</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="other" displayLabel="other"></genre><subject><genre>hwp-journal-coll</genre><topic>Clinical genetics</topic></subject><subject><genre>hwp-journal-coll</genre><topic>Molecular genetics</topic></subject><originInfo><publisher>BMJ Publishing Group Ltd</publisher><dateIssued encoding="w3cdtf">2002-02</dateIssued><dateCreated encoding="w3cdtf">2002-02-01</dateCreated><copyrightDate encoding="w3cdtf">2002</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">Over the past three decades, extensive genetic, physical, transcript, and sequence maps have assisted in the mapping of over 30 genetic diseases and in the identification of over 550 genes on human chromosome 14. Additional genetic disorders were assigned to chromosome 14 by studying either constitutional or acquired chromosome aberrations of affected subjects. Studies of benign and malignant tumours by karyotype analyses and by allelotyping with a panel of polymorphic genetic markers have further suggested the presence of several tumour suppressor loci on chromosome 14. The search for disease genes on human chromosome 14 has also been achieved by exploiting the human-mouse comparative maps. Research on uniparental disomy and on the search for imprinted genes has supported evidence of epigenetic inheritance as a result of imprinting on human chromosome 14. This review focuses on the current developments on human chromosome 14 with respect to genetic maps, physical maps, transcript maps, sequence maps, genes, diseases, mouse-human comparative maps, and imprinting.</abstract><note type="author-notes">Correspondence to:
Dr D W Cox, 8-39 Medical Sciences Building, University of Alberta Edmonton, Alberta T6G 2H7, Canada;
diane.cox@ualberta.ca</note><subject lang="en"><genre>KWD</genre><topic>chromosome 14</topic><topic>imprinting</topic><topic>cancer</topic><topic>comparative maps</topic></subject><subject lang="en"><genre>ABR</genre><topic>STRP, short tandem repeat polymorphism</topic><topic>OLA, oligonucleotide ligation assay</topic><topic>SNP, single nucleotide polymorphism</topic><topic>STS, sequence tagged site</topic><topic>EST, expressed sequence tag</topic><topic>LOH, loss of heterozygosity</topic><topic>TS, tumour suppressor</topic></subject><relatedItem type="host"><titleInfo><title>Journal of Medical Genetics</title></titleInfo><titleInfo type="abbreviated"><title>J Med Genet</title></titleInfo><genre type="journal">journal</genre><identifier type="ISSN">0022-2593</identifier><identifier type="eISSN">1468-6244</identifier><identifier type="PublisherID-hwp">jmedgenet</identifier><identifier type="PublisherID-nlm-ta">J Med Genet</identifier><part><date>2002</date><detail type="volume"><caption>vol.</caption><number>39</number></detail><detail type="issue"><caption>no.</caption><number>2</number></detail><extent unit="pages"><start>81</start></extent></part></relatedItem><identifier type="istex">BE54F1528AACB1496332C9722FFDAA5A6593502C</identifier><identifier type="DOI">10.1136/jmg.39.2.81</identifier><identifier type="href">jmedgenet-39-81.pdf</identifier><identifier type="PMID">11836355</identifier><identifier type="local">0390081</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright 2002 Journal of Medical Genetics</accessCondition><recordInfo><recordContentSource>BMJ</recordContentSource></recordInfo></mods></metadata><annexes><json:item><extension>jpeg</extension><original>true</original><mimetype>image/jpeg</mimetype><uri>https://api.istex.fr/document/BE54F1528AACB1496332C9722FFDAA5A6593502C/annexes/jpeg</uri></json:item></annexes><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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