Characterization of the Human TESTIN Gene Localized in the FRA7G Region at 7q31.2
Cancer-associated chromosomal aberrations often involve regions containing fragile sites. FRA7G is a common aphidicolin-inducible fragile site at 7q31.2, showing loss of heterozygosity in human malignancies. To investigate the structure of FRA7G, we constructed a bacterial artificial chromosome cont...
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| Veröffentlicht in: | Genomics (San Diego, Calif.) Calif.), 2000-08, Vol.68 (1), p.1-12 |
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| creator | Tatarelli, Caterina Linnenbach, Alban Mimori, Koshi Croce, Carlo M. |
| description | Cancer-associated chromosomal aberrations often involve regions containing fragile sites. FRA7G is a common aphidicolin-inducible fragile site at 7q31.2, showing loss of heterozygosity in human malignancies. To investigate the structure of FRA7G, we constructed a bacterial artificial chromosome contig spanning the region between marker D7S486 and Met H. Analysis of the FRA7G sequence allowed us to identify a gene encoding a 421-amino-acid protein with three LIM domains and 89% identity to murine Testin. We determined the genomic structure of the human TESTIN locus and characterized three alternative transcripts. Although TESTIN mRNA is expressed in all normal human tissues examined, we observed lack of expression in 22% of cancer cell lines and 44% of the cell lines derived from hematological malignancies. We further determined that in most of these cases the inactivation of TESTIN expression is due to methylation of a CpG island. Analysis of the TESTIN coding region in 26 tumor cell lines revealed three missense mutations. Our findings suggest that TESTIN may represent a candidate tumor suppressor gene at 7q31.2. |
| doi_str_mv | 10.1006/geno.2000.6272 |
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FRA7G is a common aphidicolin-inducible fragile site at 7q31.2, showing loss of heterozygosity in human malignancies. To investigate the structure of FRA7G, we constructed a bacterial artificial chromosome contig spanning the region between marker D7S486 and Met H. Analysis of the FRA7G sequence allowed us to identify a gene encoding a 421-amino-acid protein with three LIM domains and 89% identity to murine Testin. We determined the genomic structure of the human TESTIN locus and characterized three alternative transcripts. Although TESTIN mRNA is expressed in all normal human tissues examined, we observed lack of expression in 22% of cancer cell lines and 44% of the cell lines derived from hematological malignancies. We further determined that in most of these cases the inactivation of TESTIN expression is due to methylation of a CpG island. Analysis of the TESTIN coding region in 26 tumor cell lines revealed three missense mutations. Our findings suggest that TESTIN may represent a candidate tumor suppressor gene at 7q31.2.</description><identifier>ISSN: 0888-7543</identifier><identifier>EISSN: 1089-8646</identifier><identifier>DOI: 10.1006/geno.2000.6272</identifier><identifier>PMID: 10950921</identifier><language>eng</language><publisher>San Diego, CA: Elsevier Inc</publisher><subject>Amino Acid Sequence ; Base Sequence ; Biological and medical sciences ; Blotting, Northern ; Caveolin 1 ; Caveolin 2 ; Caveolins - genetics ; Cell physiology ; Cell transformation and carcinogenesis. Action of oncogenes and antioncogenes ; chromosome 7 ; Chromosome Fragile Sites ; Chromosome Fragility ; Chromosomes, Human, Pair 7 - genetics ; Cytoskeletal Proteins ; DNA - chemistry ; DNA - genetics ; DNA Methylation ; DNA Mutational Analysis ; DNA, Complementary - chemistry ; DNA, Complementary - genetics ; Exons ; Female ; fragile sites ; Fundamental and applied biological sciences. Psychology ; Gene Expression ; Genes - genetics ; Homeodomain Proteins ; Humans ; Introns ; LIM Domain Proteins ; Male ; Molecular and cellular biology ; Molecular Sequence Data ; Mutation ; Physical Chromosome Mapping ; Protein Isoforms - genetics ; Proteins - genetics ; RNA, Messenger - genetics ; RNA, Messenger - metabolism ; Sequence Alignment ; Sequence Analysis, DNA ; Sequence Homology, Amino Acid ; TESTIN gene ; Tissue Distribution ; Tumor Cells, Cultured ; Tumor Suppressor Proteins</subject><ispartof>Genomics (San Diego, Calif.), 2000-08, Vol.68 (1), p.1-12</ispartof><rights>2000 Academic Press</rights><rights>2000 INIST-CNRS</rights><rights>Copyright 2000 Academic Press.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c466t-21c785f9e2ffc5a4493d376292520a7ca1a1462e33cf9ea061b96f0f010fd8c73</citedby><cites>FETCH-LOGICAL-c466t-21c785f9e2ffc5a4493d376292520a7ca1a1462e33cf9ea061b96f0f010fd8c73</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://dx.doi.org/10.1006/geno.2000.6272$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,777,781,3537,27905,27906,45976</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=1504850$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/10950921$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Tatarelli, Caterina</creatorcontrib><creatorcontrib>Linnenbach, Alban</creatorcontrib><creatorcontrib>Mimori, Koshi</creatorcontrib><creatorcontrib>Croce, Carlo M.</creatorcontrib><title>Characterization of the Human TESTIN Gene Localized in the FRA7G Region at 7q31.2</title><title>Genomics (San Diego, Calif.)</title><addtitle>Genomics</addtitle><description>Cancer-associated chromosomal aberrations often involve regions containing fragile sites. FRA7G is a common aphidicolin-inducible fragile site at 7q31.2, showing loss of heterozygosity in human malignancies. To investigate the structure of FRA7G, we constructed a bacterial artificial chromosome contig spanning the region between marker D7S486 and Met H. Analysis of the FRA7G sequence allowed us to identify a gene encoding a 421-amino-acid protein with three LIM domains and 89% identity to murine Testin. We determined the genomic structure of the human TESTIN locus and characterized three alternative transcripts. Although TESTIN mRNA is expressed in all normal human tissues examined, we observed lack of expression in 22% of cancer cell lines and 44% of the cell lines derived from hematological malignancies. We further determined that in most of these cases the inactivation of TESTIN expression is due to methylation of a CpG island. Analysis of the TESTIN coding region in 26 tumor cell lines revealed three missense mutations. Our findings suggest that TESTIN may represent a candidate tumor suppressor gene at 7q31.2.</description><subject>Amino Acid Sequence</subject><subject>Base Sequence</subject><subject>Biological and medical sciences</subject><subject>Blotting, Northern</subject><subject>Caveolin 1</subject><subject>Caveolin 2</subject><subject>Caveolins - genetics</subject><subject>Cell physiology</subject><subject>Cell transformation and carcinogenesis. Action of oncogenes and antioncogenes</subject><subject>chromosome 7</subject><subject>Chromosome Fragile Sites</subject><subject>Chromosome Fragility</subject><subject>Chromosomes, Human, Pair 7 - genetics</subject><subject>Cytoskeletal Proteins</subject><subject>DNA - chemistry</subject><subject>DNA - genetics</subject><subject>DNA Methylation</subject><subject>DNA Mutational Analysis</subject><subject>DNA, Complementary - chemistry</subject><subject>DNA, Complementary - genetics</subject><subject>Exons</subject><subject>Female</subject><subject>fragile sites</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Gene Expression</subject><subject>Genes - genetics</subject><subject>Homeodomain Proteins</subject><subject>Humans</subject><subject>Introns</subject><subject>LIM Domain Proteins</subject><subject>Male</subject><subject>Molecular and cellular biology</subject><subject>Molecular Sequence Data</subject><subject>Mutation</subject><subject>Physical Chromosome Mapping</subject><subject>Protein Isoforms - genetics</subject><subject>Proteins - genetics</subject><subject>RNA, Messenger - genetics</subject><subject>RNA, Messenger - metabolism</subject><subject>Sequence Alignment</subject><subject>Sequence Analysis, DNA</subject><subject>Sequence Homology, Amino Acid</subject><subject>TESTIN gene</subject><subject>Tissue Distribution</subject><subject>Tumor Cells, Cultured</subject><subject>Tumor Suppressor Proteins</subject><issn>0888-7543</issn><issn>1089-8646</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2000</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqF0E1vEzEQgGELgWhauHJEPiBuu4w_1h_HKmrTShGIEs6W6x23Rslua2-Q6K_H20SCC-LkyzMz1kvIOwYtA1Cf7nAYWw4AreKavyALBsY2Rkn1kizAGNPoTooTclrKj6qsMPw1OWFgO7CcLcjX5b3PPkyY05Of0jjQMdLpHunVfucHurn4trn-TFc4IF2PwW_TE_Y0Dc_k8uZcr-gN3s1jfqL6UbCWvyGvot8WfHt8z8j3y4vN8qpZf1ldL8_XTZBKTQ1nQZsuWuQxhs5LaUUvtOKWdxy8Dp55JhVHIUJFHhS7tSpCBAaxN0GLM_LxsPchj497LJPbpRJwu_UDjvviNGdWMyH_C1m9yiSoCtsDDHksJWN0DzntfP7lGLi5tptru7m2m2vXgffHzfvbHfZ_8UPeCj4cgS81Xsx-CKn8cR1I00Fl5sCw9vqZMLsSEg4B-5QxTK4f07--8BvyYpdN</recordid><startdate>20000815</startdate><enddate>20000815</enddate><creator>Tatarelli, Caterina</creator><creator>Linnenbach, Alban</creator><creator>Mimori, Koshi</creator><creator>Croce, Carlo M.</creator><general>Elsevier Inc</general><general>Elsevier</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>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>20000815</creationdate><title>Characterization of the Human TESTIN Gene Localized in the FRA7G Region at 7q31.2</title><author>Tatarelli, Caterina ; Linnenbach, Alban ; Mimori, Koshi ; Croce, Carlo M.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c466t-21c785f9e2ffc5a4493d376292520a7ca1a1462e33cf9ea061b96f0f010fd8c73</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2000</creationdate><topic>Amino Acid Sequence</topic><topic>Base Sequence</topic><topic>Biological and medical sciences</topic><topic>Blotting, Northern</topic><topic>Caveolin 1</topic><topic>Caveolin 2</topic><topic>Caveolins - genetics</topic><topic>Cell physiology</topic><topic>Cell transformation and carcinogenesis. Action of oncogenes and antioncogenes</topic><topic>chromosome 7</topic><topic>Chromosome Fragile Sites</topic><topic>Chromosome Fragility</topic><topic>Chromosomes, Human, Pair 7 - genetics</topic><topic>Cytoskeletal Proteins</topic><topic>DNA - chemistry</topic><topic>DNA - genetics</topic><topic>DNA Methylation</topic><topic>DNA Mutational Analysis</topic><topic>DNA, Complementary - chemistry</topic><topic>DNA, Complementary - genetics</topic><topic>Exons</topic><topic>Female</topic><topic>fragile sites</topic><topic>Fundamental and applied biological sciences. Psychology</topic><topic>Gene Expression</topic><topic>Genes - genetics</topic><topic>Homeodomain Proteins</topic><topic>Humans</topic><topic>Introns</topic><topic>LIM Domain Proteins</topic><topic>Male</topic><topic>Molecular and cellular biology</topic><topic>Molecular Sequence Data</topic><topic>Mutation</topic><topic>Physical Chromosome Mapping</topic><topic>Protein Isoforms - genetics</topic><topic>Proteins - genetics</topic><topic>RNA, Messenger - genetics</topic><topic>RNA, Messenger - metabolism</topic><topic>Sequence Alignment</topic><topic>Sequence Analysis, DNA</topic><topic>Sequence Homology, Amino Acid</topic><topic>TESTIN gene</topic><topic>Tissue Distribution</topic><topic>Tumor Cells, Cultured</topic><topic>Tumor Suppressor Proteins</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Tatarelli, Caterina</creatorcontrib><creatorcontrib>Linnenbach, Alban</creatorcontrib><creatorcontrib>Mimori, Koshi</creatorcontrib><creatorcontrib>Croce, Carlo M.</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>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Genomics (San Diego, Calif.)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Tatarelli, Caterina</au><au>Linnenbach, Alban</au><au>Mimori, Koshi</au><au>Croce, Carlo M.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Characterization of the Human TESTIN Gene Localized in the FRA7G Region at 7q31.2</atitle><jtitle>Genomics (San Diego, Calif.)</jtitle><addtitle>Genomics</addtitle><date>2000-08-15</date><risdate>2000</risdate><volume>68</volume><issue>1</issue><spage>1</spage><epage>12</epage><pages>1-12</pages><issn>0888-7543</issn><eissn>1089-8646</eissn><abstract>Cancer-associated chromosomal aberrations often involve regions containing fragile sites. FRA7G is a common aphidicolin-inducible fragile site at 7q31.2, showing loss of heterozygosity in human malignancies. To investigate the structure of FRA7G, we constructed a bacterial artificial chromosome contig spanning the region between marker D7S486 and Met H. Analysis of the FRA7G sequence allowed us to identify a gene encoding a 421-amino-acid protein with three LIM domains and 89% identity to murine Testin. We determined the genomic structure of the human TESTIN locus and characterized three alternative transcripts. Although TESTIN mRNA is expressed in all normal human tissues examined, we observed lack of expression in 22% of cancer cell lines and 44% of the cell lines derived from hematological malignancies. We further determined that in most of these cases the inactivation of TESTIN expression is due to methylation of a CpG island. Analysis of the TESTIN coding region in 26 tumor cell lines revealed three missense mutations. Our findings suggest that TESTIN may represent a candidate tumor suppressor gene at 7q31.2.</abstract><cop>San Diego, CA</cop><pub>Elsevier Inc</pub><pmid>10950921</pmid><doi>10.1006/geno.2000.6272</doi><tpages>12</tpages></addata></record> |
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| subjects | Amino Acid Sequence Base Sequence Biological and medical sciences Blotting, Northern Caveolin 1 Caveolin 2 Caveolins - genetics Cell physiology Cell transformation and carcinogenesis. Action of oncogenes and antioncogenes chromosome 7 Chromosome Fragile Sites Chromosome Fragility Chromosomes, Human, Pair 7 - genetics Cytoskeletal Proteins DNA - chemistry DNA - genetics DNA Methylation DNA Mutational Analysis DNA, Complementary - chemistry DNA, Complementary - genetics Exons Female fragile sites Fundamental and applied biological sciences. Psychology Gene Expression Genes - genetics Homeodomain Proteins Humans Introns LIM Domain Proteins Male Molecular and cellular biology Molecular Sequence Data Mutation Physical Chromosome Mapping Protein Isoforms - genetics Proteins - genetics RNA, Messenger - genetics RNA, Messenger - metabolism Sequence Alignment Sequence Analysis, DNA Sequence Homology, Amino Acid TESTIN gene Tissue Distribution Tumor Cells, Cultured Tumor Suppressor Proteins |
| title | Characterization of the Human TESTIN Gene Localized in the FRA7G Region at 7q31.2 |
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