title: Human TIP49b/RUVBL2 gene: genomic structure, expression pattern, physical link to the human CGB/LHB gene cluster on chromosome 19q13.3.
abstract: Bacterial DNA helicase RuvB protein is an essential component in homologous recombination and DNA double-strand break repair. Here, we report the gene structure of TIP49b/RUVBL2, a second putative human homologue of the bacterial RuvB gene. This gene contains 15 exons and 14 introns. The TIP49b/RUVBL2 open reading frame encodes a protein of 463 amino acids, showing 43% identity with the RUVBL1 protein. The TIP49b/RUVBL2 gene is physically linked to the human CGB/LHB gene cluster on chromosome 19q13.3. Genomic sequence analysis revealed that the TIP49b/RUVBL2 gene is very close (55 nucleotides in length) to the LHB gene, in the opposite orientation. The very close co-location of the mouse homologues of the human TIP49b/RUVBL2 and LHB genes was also conserved on mouse chromosome 7. Co-ordinated transcriptional regulation between the TIP49b/RUVBL2 and LHB genes was not observed. TIP49b/RUVBL2, like RUVBL1, was expressed ubiquitously in all human tissues examined and more strongly in testis. As TIP49b/RUVBL2 is expected to be involved in recombination repair and is located in a chromosome region frequently amplified in breast cancer, we quantified TIP49b/RUVBL2 gene expression by using real-time quantitative RT-PCR in a series of breast tumour samples. None of the tumour samples showed an altered TIP49b/RUVBL2 transcription level relative to normal breast tissue.
authors.affiliation: Laboratoire de génétique moléculaire, UPRES JE 2195, faculté des sciences pharmaceutiques et biologiques de Paris, 4, avenue de l'Observatoire, 75006, Paris, France.
authors.forename: B
authors.initials: B
authors.lastname: Parfait
authors.forename: Y
authors.initials: Y
authors.lastname: Giovangrandi
authors.forename: M
authors.initials: M
authors.lastname: Asheuer
authors.forename: I
authors.initials: I
authors.lastname: Laurendeau
authors.forename: M
authors.initials: M
authors.lastname: Olivi
authors.forename: N
authors.initials: N
authors.lastname: Vodovar
authors.forename: D
authors.initials: D
authors.lastname: Vidaud
authors.forename: M
authors.initials: M
authors.lastname: Vidaud
authors.forename: I
authors.initials: I
authors.lastname: Bièche
mesh_terms: D000074183:ATPases Associated with Diverse Cellular Activities; D000595:Amino Acid Sequence; D001426:Bacterial Proteins / Q000235:genetics* / Q000378:metabolism; D001483:Base Sequence; D001943:Breast Neoplasms / Q000235:genetics / Q000378:metabolism; D002352:Carrier Proteins / Q000235:genetics* / Q000378:metabolism; D006063:Chorionic Gonadotropin / Q000235:genetics*; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics*; D004265:DNA Helicases / Q000235:genetics* / Q000378:metabolism; D005260:Female; D015870:Gene Expression; D008040:Genetic Linkage; D006801:Humans; D007986:Luteinizing Hormone / Q000235:genetics*; D008969:Molecular Sequence Data; D005810:Multigene Family / Q000235:genetics; D012333:RNA, Messenger / Q000378:metabolism; D017386:Sequence Homology, Amino Acid; D014407:Tumor Cells, Cultured
chemical_list: D001426:Bacterial Proteins; D002352:Carrier Proteins; D006063:Chorionic Gonadotropin; D012333:RNA, Messenger; C061260:RuvB protein, Bacteria; D007986:Luteinizing Hormone; D000074183:ATPases Associated with Diverse Cellular Activities; D004265:DNA Helicases; C122079:RUVBL2 protein, human