title: Structural organization and splice variants of the POLE1 gene encoding the catalytic subunit of human DNA polymerase epsilon.
abstract: The catalytic subunit of human DNA polymerase epsilon, an enzyme involved in nuclear DNA replication and repair, is encoded by the POLE1 gene. This gene is composed of 51 exons spanning at least 97 kb of genomic DNA. It was found to encode three alternative mRNA splice variants that differ in their 5'-terminal sequences and in the N-termini of the predicted proteins. A CpG island covers the promoter region for the major transcript in HeLa cells. This promoter is TATA-less and contains several putative binding sites for transcription factors typical of S-phase-up-regulated and serum-responsive promoters. Potential promoter regions were also identified for the two other alternative transcripts. Interestingly, no nuclear polyadenylation signal sequence was detected in the 3'-untranslated region, although a poly(A) tail was present. These results suggest a complicated regulatory machinery for the expression of the human POLE1 gene, including three alternative transcripts expressed from three promoters.
authors.affiliation: Biocenter Oulu and Department of Biochemistry, University of Oulu, FIN-90570 Oulu, Finland.
authors.forename: D
authors.initials: D
authors.lastname: Huang
authors.forename: H
authors.initials: H
authors.lastname: Pospiech
authors.forename: T
authors.initials: T
authors.lastname: Kesti
authors.forename: J E
authors.initials: JE
authors.lastname: Syväoja
mesh_terms: D020413:3' Untranslated Regions / Q000235:genetics; D017398:Alternative Splicing; D000595:Amino Acid Sequence; D001483:Base Sequence; D020134:Catalytic Domain / Q000235:genetics*; D002460:Cell Line; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics; D003001:Cloning, Molecular; D018387:Codon, Initiator / Q000235:genetics; D018899:CpG Islands / Q000235:genetics; D004257:DNA Polymerase II / Q000235:genetics*; D005091:Exons / Q000235:genetics; D018628:Gene Dosage; D015723:Gene Library; D006367:HeLa Cells; D006801:Humans; D007438:Introns / Q000235:genetics; D008969:Molecular Sequence Data; D011061:Poly A / Q000235:genetics; D000075223:Poly-ADP-Ribose Binding Proteins; D012333:RNA, Messenger / Q000032:analysis / Q000235:genetics / Q000378:metabolism; D020218:Response Elements / Q000235:genetics; D016385:TATA Box / Q000235:genetics
chemical_list: D020413:3' Untranslated Regions; D018387:Codon, Initiator; D000075223:Poly-ADP-Ribose Binding Proteins; D012333:RNA, Messenger; D011061:Poly A; D004257:DNA Polymerase II; C119525:POLE protein, human