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Mutation analysis of the RECQL4 gene in sporadic osteosarcomas
Author(s) -
Nishijo Koichi,
Nakayama Tomitaka,
Aoyama Tomoki,
Okamoto Takeshi,
Ishibe Tatsuya,
Yasura Ko,
Shima Yasuko,
Shibata Kotaro R.,
Tsuboyama Tadao,
Nakamura Takashi,
Toguchida Junya
Publication year - 2004
Publication title -
international journal of cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.475
H-Index - 234
eISSN - 1097-0215
pISSN - 0020-7136
DOI - 10.1002/ijc.20269
Subject(s) - biology , gene , genetics , coding region , germline , mutation , intron , germline mutation , microbiology and biotechnology , somatic cell , allele , genotype , cancer research
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.