Telomere stability genes are not mutated in osteosarcoma cell lines

Cancer Genet Cytogenet. 2005 Jul 1;160(1):79-81. doi: 10.1016/j.cancergencyto.2004.12.004.

Abstract

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.

MeSH terms

  • Bone Neoplasms / genetics*
  • Cell Line, Tumor
  • Humans
  • Mutation*
  • Osteosarcoma / genetics*
  • Polymorphism, Single Nucleotide
  • Telomerase / genetics
  • Telomere*
  • Telomeric Repeat Binding Protein 1 / genetics
  • Telomeric Repeat Binding Protein 2 / genetics

Substances

  • Telomeric Repeat Binding Protein 1
  • Telomeric Repeat Binding Protein 2
  • Telomerase