title: Mutation analysis of the RECQL4 gene in sporadic osteosarcomas.
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.
authors.affiliation: Institute for Frontier Medical Sciences, Kyoto University, Kyoto, Japan.
authors.forename: Koichi
authors.initials: K
authors.lastname: Nishijo
authors.forename: Tomitaka
authors.initials: T
authors.lastname: Nakayama
authors.forename: Tomoki
authors.initials: T
authors.lastname: Aoyama
authors.forename: Takeshi
authors.initials: T
authors.lastname: Okamoto
authors.forename: Tatsuya
authors.initials: T
authors.lastname: Ishibe
authors.forename: Ko
authors.initials: K
authors.lastname: Yasura
authors.forename: Yasuko
authors.initials: Y
authors.lastname: Shima
authors.forename: Kotaro R
authors.initials: KR
authors.lastname: Shibata
authors.forename: Tadao
authors.initials: T
authors.lastname: Tsuboyama
authors.forename: Takashi
authors.initials: T
authors.lastname: Nakamura
authors.forename: Junya
authors.initials: J
authors.lastname: Toguchida
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics*; D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D001483:Base Sequence; D001859:Bone Neoplasms / Q000201:enzymology / Q000235:genetics*; D004265:DNA Helicases / Q000235:genetics*; D004252:DNA Mutational Analysis; D017931:DNA Primers; D006801:Humans; D012516:Osteosarcoma / Q000201:enzymology / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012333:RNA, Messenger / Q000235:genetics; D053484:RecQ Helicases; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014158:Transcription, Genetic / Q000235:genetics; D014407:Tumor Cells, Cultured
chemical_list: D017931:DNA Primers; D012333:RNA, Messenger; D000251:Adenosine Triphosphatases; C506731:RECQL4 protein, human; D004265:DNA Helicases; D053484:RecQ Helicases