Telomere stability genes are not mutated in osteosarcoma cell lines
| Autor: | Jason S. Liao, Lee J. Helman, Brian J. Stewart, Sharon A. Savage, Stephen J. Chanock |
|---|---|
| Rok vydání: | 2005 |
| Předmět: |
Genetics
Osteosarcoma Cancer Research Telomerase Somatic cell Bone Neoplasms Telomere Biology Polymorphism Single Nucleotide TERF1 Loss of heterozygosity Exon Cell Line Tumor Mutation Humans Telomeric Repeat Binding Protein 2 Telomeric Repeat Binding Protein 1 Molecular Biology Gene Telomeric-Repeat Binding Factor |
| Zdroj: | Cancer Genetics and Cytogenetics. 160:79-81 |
| ISSN: | 0165-4608 |
| DOI: | 10.1016/j.cancergencyto.2004.12.004 |
| Popis: | Osteosarcoma (OS), the most common primary bone tumor in adolescents and young adults, is characterized by a high degree of chromosomal abnormalities. Because telomeres are important for maintaining chromosomal integrity, it is plausible that germ-line or somatic mutations in the genes responsible for stabilizing the telomere complex could contribute to OS. We performed bi-directional sequence analysis in five OS cell lines and targeted all exons and proximal promoter regions in eight genes important in telomere stability: telomerase, the RNA component of telomerase (TERC), telomeric repeat binding factor 1, telomeric repeat binding factor 2, TERF1 interacting nuclear factor 2, human Rap1, protection of telomeres 1 and tankyrase. In this pilot study, we did not identify either somatic mutations or novel germ-line mutations in the five cell lines studied. However, we did confirm common genetic polymorphisms; an analysis of heterozygous sites suggests that loss of heterozygosity in OS is not present across these eight genes. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full Text from ScienceDirect