Mutation analysis of the RECQL4 gene in sporadic osteosarcomas
Osteosarcoma (OS) is the most prevalent malignant tumor among cases of Rothmund‐Thomson syndrome (RTS) with germline mutations of the RECQL4 gene, a member of the RecQ helicase family. We investigated the involvement of the RECQL4 gene in the development of OS unrelated to RTS. RECQL4 mRNA was detec...
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| Veröffentlicht in: | International journal of cancer 2004-09, Vol.111 (3), p.367-372 |
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| creator | Nishijo, Koichi Nakayama, Tomitaka Aoyama, Tomoki Okamoto, Takeshi Ishibe, Tatsuya Yasura, Ko Shima, Yasuko Shibata, Kotaro R. Tsuboyama, Tadao Nakamura, Takashi Toguchida, Junya |
| description | Osteosarcoma (OS) is the most prevalent malignant tumor among cases of Rothmund‐Thomson syndrome (RTS) with germline mutations of the RECQL4 gene, a member of the RecQ helicase family. We investigated the involvement of the RECQL4 gene in the development of OS unrelated to RTS. RECQL4 mRNA was detected in 9 of 9 OS cell lines by Northern blotting and 26 of 26 OS tumors by RT‐PCR. Direct sequencing of the entire coding region along with flanking splice junctions and 13 small ( |
| doi_str_mv | 10.1002/ijc.20269 |
| format | Article |
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We investigated the involvement of the RECQL4 gene in the development of OS unrelated to RTS. RECQL4 mRNA was detected in 9 of 9 OS cell lines by Northern blotting and 26 of 26 OS tumors by RT‐PCR. Direct sequencing of the entire coding region along with flanking splice junctions and 13 small (<100 bp) introns in 71 OS tumors revealed 2 sites with a single‐base change causing an amino acid change (G1814A for R355Q and C2474T for P441S) and one site with a 6 bp inframe deletion (4837‐42delTGCACC for CT857‐8del). Identical genotypes were found in corresponding normal tissues in all cases, and the frequency of each allele was not significantly different between OS and control populations. Our data indicate that the RECQL4 gene is not a frequent target for somatic mutations in sporadic OS unrelated to RTS. © 2004 Wiley‐Liss, Inc.</description><identifier>ISSN: 0020-7136</identifier><identifier>EISSN: 1097-0215</identifier><identifier>DOI: 10.1002/ijc.20269</identifier><identifier>PMID: 15221963</identifier><identifier>CODEN: IJCNAW</identifier><language>eng</language><publisher>Hoboken: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>Adenosine Triphosphatases - genetics ; Amino Acid Sequence ; Amino Acid Substitution ; Base Sequence ; Biological and medical sciences ; Bone Neoplasms - enzymology ; Bone Neoplasms - genetics ; Diseases of the osteoarticular system ; DNA Helicases - genetics ; DNA Mutational Analysis ; DNA Primers ; genomic instability ; Humans ; Medical sciences ; mutation ; osteosarcoma ; Osteosarcoma - enzymology ; Osteosarcoma - genetics ; Polymorphism, Restriction Fragment Length ; Polymorphism, Single Nucleotide - genetics ; RecQ Helicases ; RECQL4 ; Reverse Transcriptase Polymerase Chain Reaction ; RNA, Messenger - genetics ; Transcription, Genetic - genetics ; Tumor Cells, Cultured ; Tumors ; Tumors of striated muscle and skeleton</subject><ispartof>International journal of cancer, 2004-09, Vol.111 (3), p.367-372</ispartof><rights>Copyright © 2004 Wiley‐Liss, Inc.</rights><rights>2004 INIST-CNRS</rights><rights>Copyright 2004 Wiley-Liss, Inc.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4509-78f08e431feaaa267f08269305f9db658684860073c8750e0ba4444e688f74063</citedby><cites>FETCH-LOGICAL-c4509-78f08e431feaaa267f08269305f9db658684860073c8750e0ba4444e688f74063</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fijc.20269$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fijc.20269$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,777,781,1412,27905,27906,45555,45556</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=15986563$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/15221963$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Nishijo, Koichi</creatorcontrib><creatorcontrib>Nakayama, Tomitaka</creatorcontrib><creatorcontrib>Aoyama, Tomoki</creatorcontrib><creatorcontrib>Okamoto, Takeshi</creatorcontrib><creatorcontrib>Ishibe, Tatsuya</creatorcontrib><creatorcontrib>Yasura, Ko</creatorcontrib><creatorcontrib>Shima, Yasuko</creatorcontrib><creatorcontrib>Shibata, Kotaro R.</creatorcontrib><creatorcontrib>Tsuboyama, Tadao</creatorcontrib><creatorcontrib>Nakamura, Takashi</creatorcontrib><creatorcontrib>Toguchida, Junya</creatorcontrib><title>Mutation analysis of the RECQL4 gene in sporadic osteosarcomas</title><title>International journal of cancer</title><addtitle>Int J Cancer</addtitle><description>Osteosarcoma (OS) is the most prevalent malignant tumor among cases of Rothmund‐Thomson syndrome (RTS) with germline mutations of the RECQL4 gene, a member of the RecQ helicase family. We investigated the involvement of the RECQL4 gene in the development of OS unrelated to RTS. RECQL4 mRNA was detected in 9 of 9 OS cell lines by Northern blotting and 26 of 26 OS tumors by RT‐PCR. Direct sequencing of the entire coding region along with flanking splice junctions and 13 small (<100 bp) introns in 71 OS tumors revealed 2 sites with a single‐base change causing an amino acid change (G1814A for R355Q and C2474T for P441S) and one site with a 6 bp inframe deletion (4837‐42delTGCACC for CT857‐8del). Identical genotypes were found in corresponding normal tissues in all cases, and the frequency of each allele was not significantly different between OS and control populations. Our data indicate that the RECQL4 gene is not a frequent target for somatic mutations in sporadic OS unrelated to RTS. © 2004 Wiley‐Liss, Inc.</description><subject>Adenosine Triphosphatases - genetics</subject><subject>Amino Acid Sequence</subject><subject>Amino Acid Substitution</subject><subject>Base Sequence</subject><subject>Biological and medical sciences</subject><subject>Bone Neoplasms - enzymology</subject><subject>Bone Neoplasms - genetics</subject><subject>Diseases of the osteoarticular system</subject><subject>DNA Helicases - genetics</subject><subject>DNA Mutational Analysis</subject><subject>DNA Primers</subject><subject>genomic instability</subject><subject>Humans</subject><subject>Medical sciences</subject><subject>mutation</subject><subject>osteosarcoma</subject><subject>Osteosarcoma - enzymology</subject><subject>Osteosarcoma - genetics</subject><subject>Polymorphism, Restriction Fragment Length</subject><subject>Polymorphism, Single Nucleotide - genetics</subject><subject>RecQ Helicases</subject><subject>RECQL4</subject><subject>Reverse Transcriptase Polymerase Chain Reaction</subject><subject>RNA, Messenger - genetics</subject><subject>Transcription, Genetic - genetics</subject><subject>Tumor Cells, Cultured</subject><subject>Tumors</subject><subject>Tumors of striated muscle and skeleton</subject><issn>0020-7136</issn><issn>1097-0215</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2004</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqF0UFLwzAUB_AgipvTg19AelH00O2lTdL0IkiZOpmIoueSZalmtM1MWmTf3rgW9KK-Swj58X-PPISOMYwxQDTRKzmOIGLpDhpiSJMQIkx30dC_QZjgmA3QgXMrAIwpkH00wDSKcMriIbq8bxvRaFMHohblxmkXmCJo3lTwNM0e5yR4VbUKdB24tbFiqWVgXKOME1aaSrhDtFeI0qmj_hyhl-vpc3Ybzh9uZtnVPJSEQhomvACuSIwLJYSIWOKvftwYaJEuF4xyxglnAEkseUJBwUIQX4pxXiQEWDxCZ13u2pr3Vrkmr7STqixFrUzrcuaL0Dj28PxPiH0-Jynh8G8mTpifK8IeXnRQWuOcVUW-troSdpNjyL8WkPsF5NsFeHvSh7aLSi2_Zf_jHpz2QDgpysKKWmr3w6Wc0a2bdO5Dl2rze8d8dpd1rT8BQ3OYkw</recordid><startdate>20040901</startdate><enddate>20040901</enddate><creator>Nishijo, Koichi</creator><creator>Nakayama, Tomitaka</creator><creator>Aoyama, Tomoki</creator><creator>Okamoto, Takeshi</creator><creator>Ishibe, Tatsuya</creator><creator>Yasura, Ko</creator><creator>Shima, Yasuko</creator><creator>Shibata, Kotaro R.</creator><creator>Tsuboyama, Tadao</creator><creator>Nakamura, Takashi</creator><creator>Toguchida, Junya</creator><general>Wiley Subscription Services, Inc., A Wiley Company</general><general>Wiley-Liss</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>7TO</scope><scope>H94</scope><scope>7X8</scope></search><sort><creationdate>20040901</creationdate><title>Mutation analysis of the RECQL4 gene in sporadic osteosarcomas</title><author>Nishijo, Koichi ; Nakayama, Tomitaka ; Aoyama, Tomoki ; Okamoto, Takeshi ; Ishibe, Tatsuya ; Yasura, Ko ; Shima, Yasuko ; Shibata, Kotaro R. ; Tsuboyama, Tadao ; Nakamura, Takashi ; Toguchida, Junya</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4509-78f08e431feaaa267f08269305f9db658684860073c8750e0ba4444e688f74063</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2004</creationdate><topic>Adenosine Triphosphatases - genetics</topic><topic>Amino Acid Sequence</topic><topic>Amino Acid Substitution</topic><topic>Base Sequence</topic><topic>Biological and medical sciences</topic><topic>Bone Neoplasms - enzymology</topic><topic>Bone Neoplasms - genetics</topic><topic>Diseases of the osteoarticular system</topic><topic>DNA Helicases - genetics</topic><topic>DNA Mutational Analysis</topic><topic>DNA Primers</topic><topic>genomic instability</topic><topic>Humans</topic><topic>Medical sciences</topic><topic>mutation</topic><topic>osteosarcoma</topic><topic>Osteosarcoma - enzymology</topic><topic>Osteosarcoma - genetics</topic><topic>Polymorphism, Restriction Fragment Length</topic><topic>Polymorphism, Single Nucleotide - genetics</topic><topic>RecQ Helicases</topic><topic>RECQL4</topic><topic>Reverse Transcriptase Polymerase Chain Reaction</topic><topic>RNA, Messenger - genetics</topic><topic>Transcription, Genetic - genetics</topic><topic>Tumor Cells, Cultured</topic><topic>Tumors</topic><topic>Tumors of striated muscle and skeleton</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Nishijo, Koichi</creatorcontrib><creatorcontrib>Nakayama, Tomitaka</creatorcontrib><creatorcontrib>Aoyama, Tomoki</creatorcontrib><creatorcontrib>Okamoto, Takeshi</creatorcontrib><creatorcontrib>Ishibe, Tatsuya</creatorcontrib><creatorcontrib>Yasura, Ko</creatorcontrib><creatorcontrib>Shima, Yasuko</creatorcontrib><creatorcontrib>Shibata, Kotaro R.</creatorcontrib><creatorcontrib>Tsuboyama, Tadao</creatorcontrib><creatorcontrib>Nakamura, Takashi</creatorcontrib><creatorcontrib>Toguchida, Junya</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>Oncogenes and Growth Factors Abstracts</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>International journal of cancer</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Nishijo, Koichi</au><au>Nakayama, Tomitaka</au><au>Aoyama, Tomoki</au><au>Okamoto, Takeshi</au><au>Ishibe, Tatsuya</au><au>Yasura, Ko</au><au>Shima, Yasuko</au><au>Shibata, Kotaro R.</au><au>Tsuboyama, Tadao</au><au>Nakamura, Takashi</au><au>Toguchida, Junya</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Mutation analysis of the RECQL4 gene in sporadic osteosarcomas</atitle><jtitle>International journal of cancer</jtitle><addtitle>Int J Cancer</addtitle><date>2004-09-01</date><risdate>2004</risdate><volume>111</volume><issue>3</issue><spage>367</spage><epage>372</epage><pages>367-372</pages><issn>0020-7136</issn><eissn>1097-0215</eissn><coden>IJCNAW</coden><abstract>Osteosarcoma (OS) is the most prevalent malignant tumor among cases of Rothmund‐Thomson syndrome (RTS) with germline mutations of the RECQL4 gene, a member of the RecQ helicase family. We investigated the involvement of the RECQL4 gene in the development of OS unrelated to RTS. RECQL4 mRNA was detected in 9 of 9 OS cell lines by Northern blotting and 26 of 26 OS tumors by RT‐PCR. Direct sequencing of the entire coding region along with flanking splice junctions and 13 small (<100 bp) introns in 71 OS tumors revealed 2 sites with a single‐base change causing an amino acid change (G1814A for R355Q and C2474T for P441S) and one site with a 6 bp inframe deletion (4837‐42delTGCACC for CT857‐8del). Identical genotypes were found in corresponding normal tissues in all cases, and the frequency of each allele was not significantly different between OS and control populations. Our data indicate that the RECQL4 gene is not a frequent target for somatic mutations in sporadic OS unrelated to RTS. © 2004 Wiley‐Liss, Inc.</abstract><cop>Hoboken</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>15221963</pmid><doi>10.1002/ijc.20269</doi><tpages>6</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Adenosine Triphosphatases - genetics Amino Acid Sequence Amino Acid Substitution Base Sequence Biological and medical sciences Bone Neoplasms - enzymology Bone Neoplasms - genetics Diseases of the osteoarticular system DNA Helicases - genetics DNA Mutational Analysis DNA Primers genomic instability Humans Medical sciences mutation osteosarcoma Osteosarcoma - enzymology Osteosarcoma - genetics Polymorphism, Restriction Fragment Length Polymorphism, Single Nucleotide - genetics RecQ Helicases RECQL4 Reverse Transcriptase Polymerase Chain Reaction RNA, Messenger - genetics Transcription, Genetic - genetics Tumor Cells, Cultured Tumors Tumors of striated muscle and skeleton |
| title | Mutation analysis of the RECQL4 gene in sporadic osteosarcomas |
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