Human TIP49b/RUVBL2 gene: genomic structure, expression pattern, physical link to the human CGB/LHB gene cluster on chromosome 19q13.3

Ann Genet. 2000 Apr-Jun;43(2):69-74. doi: 10.1016/s0003-3995(00)01016-9.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • ATPases Associated with Diverse Cellular Activities
  • Amino Acid Sequence
  • Bacterial Proteins / genetics*
  • Bacterial Proteins / metabolism
  • Base Sequence
  • Breast Neoplasms / genetics
  • Breast Neoplasms / metabolism
  • Carrier Proteins / genetics*
  • Carrier Proteins / metabolism
  • Chorionic Gonadotropin / genetics*
  • Chromosomes, Human, Pair 19 / genetics*
  • DNA Helicases / genetics*
  • DNA Helicases / metabolism
  • Female
  • Gene Expression
  • Genetic Linkage
  • Humans
  • Luteinizing Hormone / genetics*
  • Molecular Sequence Data
  • Multigene Family / genetics
  • RNA, Messenger / metabolism
  • Sequence Homology, Amino Acid
  • Tumor Cells, Cultured

Substances

  • Bacterial Proteins
  • Carrier Proteins
  • Chorionic Gonadotropin
  • RNA, Messenger
  • RuvB protein, Bacteria
  • Luteinizing Hormone
  • ATPases Associated with Diverse Cellular Activities
  • DNA Helicases
  • RUVBL2 protein, human

Associated data

  • GENBANK/AF155138