Genomic Structure and Expression of the Human Heme A:Farnesyltransferase (COX10) Gene
Charcot–Marie–Tooth disease type 1A (CMT1A) is associated with a 1.5-Mb tandem DNA duplication in chromosome 17p11.2–p12, while hereditary neuropathy with liability to pressure palsies (HNPP) is associated with a 1.5-Mb deletion at this locus. The 1.5-Mb CMT1A monomer unit duplicated in CMT1A and de...
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| Veröffentlicht in: | Genomics (San Diego, Calif.) Calif.), 1997-05, Vol.42 (1), p.161-164 |
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| creator | Murakami, Tatsufumi Reiter, Lawrence T. Lupski, James R. |
| description | Charcot–Marie–Tooth disease type 1A (CMT1A) is associated with a 1.5-Mb tandem DNA duplication in chromosome 17p11.2–p12, while hereditary neuropathy with liability to pressure palsies (HNPP) is associated with a 1.5-Mb deletion at this locus. The 1.5-Mb CMT1A monomer unit duplicated in CMT1A and deleted in HNPP is flanked by two 24-kb direct repeats termed the CMT1A-REPs. Recently, sequence analysis of the CMT1A-REPs revealed that they contain an internal exon of theCOX10gene. To characterizeCOX10,encoding human heme A:farnesyltransferase, the genomic region was isolated and the gene structure and expression profile were determined.COX10spans approximately 135 kb and consists of seven exons. Exons I–V are telomeric to the 1.5-Mb CMT1A monomer unit, whereas exon VII is located within this 1.5-Mb region. Exon VI is contained within the distal CMT1A-REP. All splice sites conform to the GT/AG rule. Analysis of the putative promoter region of theCOX10gene indicates that it lacks conventional TATA and CAAT boxes, but it does have several potential transcription factor-binding sites. This gene is expressed in multiple tissues with highest expression observed in the heart, skeletal muscle, and testis. |
| doi_str_mv | 10.1006/geno.1997.4711 |
| format | Article |
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The 1.5-Mb CMT1A monomer unit duplicated in CMT1A and deleted in HNPP is flanked by two 24-kb direct repeats termed the CMT1A-REPs. Recently, sequence analysis of the CMT1A-REPs revealed that they contain an internal exon of theCOX10gene. To characterizeCOX10,encoding human heme A:farnesyltransferase, the genomic region was isolated and the gene structure and expression profile were determined.COX10spans approximately 135 kb and consists of seven exons. Exons I–V are telomeric to the 1.5-Mb CMT1A monomer unit, whereas exon VII is located within this 1.5-Mb region. Exon VI is contained within the distal CMT1A-REP. All splice sites conform to the GT/AG rule. Analysis of the putative promoter region of theCOX10gene indicates that it lacks conventional TATA and CAAT boxes, but it does have several potential transcription factor-binding sites. This gene is expressed in multiple tissues with highest expression observed in the heart, skeletal muscle, and testis.</description><identifier>ISSN: 0888-7543</identifier><identifier>EISSN: 1089-8646</identifier><identifier>DOI: 10.1006/geno.1997.4711</identifier><identifier>PMID: 9177788</identifier><language>eng</language><publisher>San Diego, CA: Elsevier Inc</publisher><subject>Alkyl and Aryl Transferases ; Base Sequence ; Biological and medical sciences ; Charcot-Marie-Tooth Disease - enzymology ; Charcot-Marie-Tooth Disease - genetics ; Chromosome Mapping ; Chromosomes, Human, Pair 17 - genetics ; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases ; DNA Primers - genetics ; Electron Transport Complex IV ; Exons ; Gene Expression ; Hereditary Sensory and Motor Neuropathy - enzymology ; Hereditary Sensory and Motor Neuropathy - genetics ; Humans ; Introns ; Medical sciences ; Membrane Proteins - genetics ; Molecular Sequence Data ; Multigene Family ; Mutation ; Neurology ; Polymerase Chain Reaction ; Sequence Deletion ; Transferases - genetics</subject><ispartof>Genomics (San Diego, Calif.), 1997-05, Vol.42 (1), p.161-164</ispartof><rights>1997 Academic Press</rights><rights>1997 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c399t-35d4107b2d8f487edc938a6317c40a591269bc548165bac1bb1179b66e505dd3</citedby><cites>FETCH-LOGICAL-c399t-35d4107b2d8f487edc938a6317c40a591269bc548165bac1bb1179b66e505dd3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S088875439794711X$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,776,780,3537,27901,27902,65306</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=2707893$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/9177788$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Murakami, Tatsufumi</creatorcontrib><creatorcontrib>Reiter, Lawrence T.</creatorcontrib><creatorcontrib>Lupski, James R.</creatorcontrib><title>Genomic Structure and Expression of the Human Heme A:Farnesyltransferase (COX10) Gene</title><title>Genomics (San Diego, Calif.)</title><addtitle>Genomics</addtitle><description>Charcot–Marie–Tooth disease type 1A (CMT1A) is associated with a 1.5-Mb tandem DNA duplication in chromosome 17p11.2–p12, while hereditary neuropathy with liability to pressure palsies (HNPP) is associated with a 1.5-Mb deletion at this locus. The 1.5-Mb CMT1A monomer unit duplicated in CMT1A and deleted in HNPP is flanked by two 24-kb direct repeats termed the CMT1A-REPs. Recently, sequence analysis of the CMT1A-REPs revealed that they contain an internal exon of theCOX10gene. To characterizeCOX10,encoding human heme A:farnesyltransferase, the genomic region was isolated and the gene structure and expression profile were determined.COX10spans approximately 135 kb and consists of seven exons. Exons I–V are telomeric to the 1.5-Mb CMT1A monomer unit, whereas exon VII is located within this 1.5-Mb region. Exon VI is contained within the distal CMT1A-REP. All splice sites conform to the GT/AG rule. Analysis of the putative promoter region of theCOX10gene indicates that it lacks conventional TATA and CAAT boxes, but it does have several potential transcription factor-binding sites. This gene is expressed in multiple tissues with highest expression observed in the heart, skeletal muscle, and testis.</description><subject>Alkyl and Aryl Transferases</subject><subject>Base Sequence</subject><subject>Biological and medical sciences</subject><subject>Charcot-Marie-Tooth Disease - enzymology</subject><subject>Charcot-Marie-Tooth Disease - genetics</subject><subject>Chromosome Mapping</subject><subject>Chromosomes, Human, Pair 17 - genetics</subject><subject>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</subject><subject>DNA Primers - genetics</subject><subject>Electron Transport Complex IV</subject><subject>Exons</subject><subject>Gene Expression</subject><subject>Hereditary Sensory and Motor Neuropathy - enzymology</subject><subject>Hereditary Sensory and Motor Neuropathy - genetics</subject><subject>Humans</subject><subject>Introns</subject><subject>Medical sciences</subject><subject>Membrane Proteins - genetics</subject><subject>Molecular Sequence Data</subject><subject>Multigene Family</subject><subject>Mutation</subject><subject>Neurology</subject><subject>Polymerase Chain Reaction</subject><subject>Sequence Deletion</subject><subject>Transferases - genetics</subject><issn>0888-7543</issn><issn>1089-8646</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1997</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkEtrFEEUhQtR4iS6dSfUQsQserx3qrse7sKQZIRAFkZwV1RX3daSfoxV3WL-vTXMkJ24uovzncPlY-wNwhoB5MfvNE5rNEata4X4jK0QtKm0rOVztgKtdaWaWrxk5zn_BAAj9OaMnRlUSmm9Yl9vS3-Inn-Z0-LnJRF3Y-DXf_aJco7TyKeOzz-I75bBjXxHA_GrTzcujZQf-zm5MXeUXCb-YXv_DeGSl0F6xV50rs_0-nQv2MPN9cN2V93d337eXt1VXhgzV6IJNYJqN0F3tVYUfHnPSYHK1-AagxtpWt_UGmXTOo9ti6hMKyU10IQgLtj74-w-Tb8WyrMdYvbU926kaclWGRAgEf4LogShlFAFXB9Bn6acE3V2n-Lg0qNFsAff9uDbHnzbg-9SeHtaXtqBwhN-Elzyd6fcZe_6rgjzMT9hGwVKG1EwfcSo2PodKdnsI42eQkzkZxum-K8P_gLe9pnz</recordid><startdate>19970515</startdate><enddate>19970515</enddate><creator>Murakami, Tatsufumi</creator><creator>Reiter, Lawrence T.</creator><creator>Lupski, James R.</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>19970515</creationdate><title>Genomic Structure and Expression of the Human Heme A:Farnesyltransferase (COX10) Gene</title><author>Murakami, Tatsufumi ; Reiter, Lawrence T. ; Lupski, James R.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c399t-35d4107b2d8f487edc938a6317c40a591269bc548165bac1bb1179b66e505dd3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1997</creationdate><topic>Alkyl and Aryl Transferases</topic><topic>Base Sequence</topic><topic>Biological and medical sciences</topic><topic>Charcot-Marie-Tooth Disease - enzymology</topic><topic>Charcot-Marie-Tooth Disease - genetics</topic><topic>Chromosome Mapping</topic><topic>Chromosomes, Human, Pair 17 - genetics</topic><topic>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</topic><topic>DNA Primers - genetics</topic><topic>Electron Transport Complex IV</topic><topic>Exons</topic><topic>Gene Expression</topic><topic>Hereditary Sensory and Motor Neuropathy - enzymology</topic><topic>Hereditary Sensory and Motor Neuropathy - genetics</topic><topic>Humans</topic><topic>Introns</topic><topic>Medical sciences</topic><topic>Membrane Proteins - genetics</topic><topic>Molecular Sequence Data</topic><topic>Multigene Family</topic><topic>Mutation</topic><topic>Neurology</topic><topic>Polymerase Chain Reaction</topic><topic>Sequence Deletion</topic><topic>Transferases - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Murakami, Tatsufumi</creatorcontrib><creatorcontrib>Reiter, Lawrence T.</creatorcontrib><creatorcontrib>Lupski, James R.</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>Murakami, Tatsufumi</au><au>Reiter, Lawrence T.</au><au>Lupski, James R.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Genomic Structure and Expression of the Human Heme A:Farnesyltransferase (COX10) Gene</atitle><jtitle>Genomics (San Diego, Calif.)</jtitle><addtitle>Genomics</addtitle><date>1997-05-15</date><risdate>1997</risdate><volume>42</volume><issue>1</issue><spage>161</spage><epage>164</epage><pages>161-164</pages><issn>0888-7543</issn><eissn>1089-8646</eissn><abstract>Charcot–Marie–Tooth disease type 1A (CMT1A) is associated with a 1.5-Mb tandem DNA duplication in chromosome 17p11.2–p12, while hereditary neuropathy with liability to pressure palsies (HNPP) is associated with a 1.5-Mb deletion at this locus. The 1.5-Mb CMT1A monomer unit duplicated in CMT1A and deleted in HNPP is flanked by two 24-kb direct repeats termed the CMT1A-REPs. Recently, sequence analysis of the CMT1A-REPs revealed that they contain an internal exon of theCOX10gene. To characterizeCOX10,encoding human heme A:farnesyltransferase, the genomic region was isolated and the gene structure and expression profile were determined.COX10spans approximately 135 kb and consists of seven exons. Exons I–V are telomeric to the 1.5-Mb CMT1A monomer unit, whereas exon VII is located within this 1.5-Mb region. Exon VI is contained within the distal CMT1A-REP. All splice sites conform to the GT/AG rule. Analysis of the putative promoter region of theCOX10gene indicates that it lacks conventional TATA and CAAT boxes, but it does have several potential transcription factor-binding sites. This gene is expressed in multiple tissues with highest expression observed in the heart, skeletal muscle, and testis.</abstract><cop>San Diego, CA</cop><pub>Elsevier Inc</pub><pmid>9177788</pmid><doi>10.1006/geno.1997.4711</doi><tpages>4</tpages></addata></record> |
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| subjects | Alkyl and Aryl Transferases Base Sequence Biological and medical sciences Charcot-Marie-Tooth Disease - enzymology Charcot-Marie-Tooth Disease - genetics Chromosome Mapping Chromosomes, Human, Pair 17 - genetics Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases DNA Primers - genetics Electron Transport Complex IV Exons Gene Expression Hereditary Sensory and Motor Neuropathy - enzymology Hereditary Sensory and Motor Neuropathy - genetics Humans Introns Medical sciences Membrane Proteins - genetics Molecular Sequence Data Multigene Family Mutation Neurology Polymerase Chain Reaction Sequence Deletion Transferases - genetics |
| title | Genomic Structure and Expression of the Human Heme A:Farnesyltransferase (COX10) Gene |
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