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  • Original Paper
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The human telomerase gene: complete genomic sequence and analysis of tandem repeat polymorphisms in intronic regions

Oncogene volume 21, pages 769–777 (2002)Cite this article

Abstract

In this work, the full-length hTERT gene was isolated and the sequence of the previously unknown region in intron 6 as well as that of upstream and downstream hTERT regions was determined. We have shown that intron 6 includes a variable number of tandem repeats (VNTR) of a 38 bp sequence, (hTERT-VNTR 6-1). Eight alleles of hTERT-VNTR 6-1 were identified among 103 unrelated individuals, ranging from 27 to 47 repeats. hTERT-VNTR 2-2 is another new 61 bp minisatellite repeat found in intron 2 of hTERT. At least four alleles of hTERT-VNTR 2-2 can be distinguished. Previous studies have described polymorphisms for minisatellites hTERT-VNTR 2-1, a 42 bp repeat in intron 2, and hTERT-VNTR 6-2, a 36 bp repeat in intron 6. These, together with another minisatellite found in intron 12, add up to five such structures within the hTERT gene. The segregation of hTERT minisatellites was analysed in families, revealing that the VNTRs are transmitted through meiosis following a Mendelian inheritance. Minisatellites in hTERT were also analysed in matching normal and cancer tissues from patients with tumors; in one patient with a kidney tumor, the two VNTRs in intron 6 had undergone concomitant rearrangements. This observation suggests that chromosomal rearrangements implicating these VNTRs may be associated with the activation of telomerase expression in cancer cells.

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Acknowledgements

This work (S-H Leem, J-H Kim and J-E Park) was supported by grant No. 2000–2–20900–001–3 from Basic Research Program of the Korea Science & Engineering Foundation. We would like to express our appreciation to the Dong-A University students and their families who provided their own blood for the experiments.

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Author notes

  1. Sun-Hee Leem and J Arturo Londoño-Vallejo: S-H Leem and JA Londoño-Vallejo contributed equally

Authors and Affiliations

  1. Department of Biology, Dong-A University, Pusan 604-714, Korea

    Sun-Hee Leem, Jung-Hyun Kim & Jung-Eun Park

  2. U. INSERM 434-Genetique de Tumeurs, Centre d'Etudes du Polymorphisme Humain, France

    J Arturo Londoño-Vallejo, Hung Bui & Emmanuel Tubacher

  3. Laboratory of Biosystems and Cancer, National Cancer Institute (NCI, NIH), Bethesda, MD 20892-4471, Maryland, USA

    Sun-Hee Leem, Jung-Hyun Kim, Jung-Eun Park, Izumi Horikawa, Natalay Kouprina, J Carl Barrett & Vladimir Larionov

  4. Laboratory of Molecular Carcinogenesis, National Institute of Environmental Health Sciences (NIEH), Research Triangle Park, North Carolina, 27709, NC, USA

    Greg Solomon

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  1. Sun-Hee Leem
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Correspondence to Vladimir Larionov.

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Leem, SH., Londoño-Vallejo, J., Kim, JH. et al. The human telomerase gene: complete genomic sequence and analysis of tandem repeat polymorphisms in intronic regions. Oncogene 21, 769–777 (2002). https://doi.org/10.1038/sj.onc.1205122

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