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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Bibliographic Details
Published in:International journal of cancer 2004-09, Vol.111 (3), p.367-372
Main Authors: Nishijo, Koichi, Nakayama, Tomitaka, Aoyama, Tomoki, Okamoto, Takeshi, Ishibe, Tatsuya, Yasura, Ko, Shima, Yasuko, Shibata, Kotaro R., Tsuboyama, Tadao, Nakamura, Takashi, Toguchida, Junya
Format: Article
Language:English
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
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Summary: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 (
ISSN:0020-7136
1097-0215
DOI:10.1002/ijc.20269