Mutation analysis of the RECQL4 gene in sporadic osteosarcomas

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...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:International journal of cancer 2004-09, Vol.111 (3), p.367-372
Hauptverfasser: Nishijo, Koichi, Nakayama, Tomitaka, Aoyama, Tomoki, Okamoto, Takeshi, Ishibe, Tatsuya, Yasura, Ko, Shima, Yasuko, Shibata, Kotaro R., Tsuboyama, Tadao, Nakamura, Takashi, Toguchida, Junya
Format: Artikel
Sprache:eng
Schlagworte:
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
Online-Zugang:Volltext
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
Beschreibung
Zusammenfassung: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