title: The human telomerase gene: complete genomic sequence and analysis of tandem repeat polymorphisms in intronic regions.
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.
authors.affiliation: Department of Biology, Dong-A University, Pusan 604-714, Korea.
authors.forename: Sun-Hee
authors.initials: SH
authors.lastname: Leem
authors.forename: J Arturo
authors.initials: JA
authors.lastname: Londoño-Vallejo
authors.forename: Jung-Hyun
authors.initials: JH
authors.lastname: Kim
authors.forename: Hung
authors.initials: H
authors.lastname: Bui
authors.forename: Emmanuel
authors.initials: E
authors.lastname: Tubacher
authors.forename: Greg
authors.initials: G
authors.lastname: Solomon
authors.forename: Jung-Eun
authors.initials: JE
authors.lastname: Park
authors.forename: Izumi
authors.initials: I
authors.lastname: Horikawa
authors.forename: Natalay
authors.initials: N
authors.lastname: Kouprina
authors.forename: J Carl
authors.initials: JC
authors.lastname: Barrett
authors.forename: Vladimir
authors.initials: V
authors.lastname: Larionov
mesh_terms: D001483:Base Sequence; D004268:DNA-Binding Proteins; D005796:Genes; D015698:Genomic Library; D006801:Humans; D007438:Introns; D018598:Minisatellite Repeats; D008969:Molecular Sequence Data; D009369:Neoplasms / Q000235:genetics; D011110:Polymorphism, Genetic; D017422:Sequence Analysis, DNA; D019098:Telomerase / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; D019098:Telomerase