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Mutation analysis of the RECQL4 gene in sporadic osteosarcomas

✍ Scribed by Koichi Nishijo; Tomitaka Nakayama; Tomoki Aoyama; Takeshi Okamoto; Tatsuya Ishibe; Ko Yasura; Yasuko Shima; Kotaro R. Shibata; Tadao Tsuboyama; Takashi Nakamura; Junya Toguchida

Publisher
John Wiley and Sons
Year
2004
Tongue
French
Weight
270 KB
Volume
111
Category
Article
ISSN
0020-7136

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✦ Synopsis

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.

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