TERT promoter mutations and telomerase reactivation in urothelial cancer

Author:

Borah Sumit12,Xi Linghe13,Zaug Arthur J.12,Powell Natasha M.13,Dancik Garrett M.4,Cohen Scott B.5,Costello James C.67,Theodorescu Dan678,Cech Thomas R.1236

Affiliation:

1. Howard Hughes Medical Institute, University of Colorado BioFrontiers Institute, Boulder, CO 80309, USA.

2. Department of Chemistry and Biochemistry, University of Colorado, Boulder, CO 80309, USA.

3. Department of Molecular, Cellular, and Developmental Biology, University of Colorado, Boulder, CO 80309, USA.

4. Department of Mathematics and Computer Science, Eastern Connecticut State University, Willimantic, CT 06226, USA.

5. Children’s Medical Research Institute and University of Sydney, Westmead, NSW 2145, Australia.

6. University of Colorado Comprehensive Cancer Center, Aurora, CO 80045, USA.

7. Department of Pharmacology, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.

8. Department of Surgery, University of Colorado, Aurora, CO 80045, USA.

Abstract

The downstream effects of false promotion Special DNA sequences at the ends of chromosomes, called telomeres, are replenished by a dedicated enzyme called telomerase. A subset of human tumors harbors mutations in the promoter region of the TERT gene, which codes for a subunit of telomerase. Borah et al. explored the downstream effects of TERT promoter mutations in cells derived from urothelial (urinary tract) cancers. The mutations were associated with aberrantly high levels of TERT mRNA, TERT protein and telomerase activity, and longer telomeres. A small study of clinical samples suggested that high levels of TERT mRNA may be a marker of more aggressive urothelial cancers. Science , this issue p. 1006

Funder

NIH

Howard Hughes Medical Institute

Cancer Council NSW

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

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