title: Expression profile of a gamma-deletion variant of the human telomerase reverse transcriptase gene.
abstract: The human telomerase reverse transcriptase (hTERT) is an essential component of the holoenzyme complex that adds telomeric repeats to the ends of chromosomes. The hTERT transcript has been shown to have two deletion type alternative splicing sites. One deletion site induces the alpha-deletion variant, lacking 36 bp from exon 6, and the other induces the beta-deletion variant, lacking 182 bp from exons 7 and 8. Here, we identified a novel deletion variant of the hTERT transcript in hepatocellular carcinoma cell lines. The deleted transcript was characterized by an in-frame deletion of 189 bp, spanning nucleotides 2710 to 2898, corresponding to the complete loss of exon 11 (gamma-deletion). The region lacking in the gamma-deletion lies within RT motifs D and E, suggesting that it is missing conserved residues from the catalytic core of the protein. Both gamma- and alpha-deletion variants were occasionally detected, but the beta-deletion variant was frequently observed. Our results may provide important information for more detailed studies on the regulation of telomerase activity.
authors.affiliation: Center for Molecular Biology and Cytogenetics, SRL Inc., 5-6-50 Shin-machi Hino, Tokyo, Japan. hisatomi@srl.srl-inc.co.jp
authors.forename: Hisashi
authors.initials: H
authors.lastname: Hisatomi
authors.forename: Kazuma
authors.initials: K
authors.lastname: Ohyashiki
authors.forename: Junko H
authors.initials: JH
authors.lastname: Ohyashiki
authors.forename: Kumi
authors.initials: K
authors.lastname: Nagao
authors.forename: Taichi
authors.initials: T
authors.lastname: Kanamaru
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Hirata
authors.forename: Nozomu
authors.initials: N
authors.lastname: Hibi
authors.forename: Yutaka
authors.initials: Y
authors.lastname: Tsukada
mesh_terms: D017398:Alternative Splicing / Q000235:genetics*; D001483:Base Sequence; D002460:Cell Line; D004268:DNA-Binding Proteins; D017353:Gene Deletion; D006801:Humans; D007527:Isoenzymes / Q000235:genetics / Q000378:metabolism; D008969:Molecular Sequence Data; D012333:RNA, Messenger / Q000032:analysis; D020133:Reverse Transcriptase Polymerase Chain Reaction; D019098:Telomerase / Q000235:genetics* / Q000378:metabolism
chemical_list: D004268:DNA-Binding Proteins; D007527:Isoenzymes; D012333:RNA, Messenger; D019098:Telomerase