title: Characterization of the human homologue of RAD54: a gene located on chromosome 1p32 at a region of high loss of heterozygosity in breast tumors.
abstract: A search of the Human Genome Sciences database of expressed sequence-tagged DNA fragments, for sequences containing homology to known yeast DNA recombination and repair genes, yielded a cDNA fragment with high homology to RAD54. Here we describe the complete cDNA sequence and the characterization of the genomic locus coding for the human homologue of the yeast RAD54 gene (hRAD54). The yeast RAD54 belongs to the RAD52 epistasis group and appears to be involved in both DNA recombination and repair. The hRAD54 gene maps to chromosome 1p32 in a region of frequent loss of heterozygosity in breast tumors and encodes a protein of M(r) 93,000 that displays 52% identity to the yeast RAD54 protein. The hRAD54 protein sequence additionally contains all seven of the consensus segments of a superfamily of proteins with presumed or proven DNA helicase activity. Mutations in genes with consensus helicase homology have been found in cancer-prone syndromes such as xeroderma pigmentosum and Bloom syndrome as well as Werner's syndrome, in which patients age prematurely, and the X-linked mental retardation with alpha-thalassemia syndrome, ATR-X. We have examined the hRAD54 gene in several breast tumors and breast tumor cell lines and, although the gene region appears to be deleted in several tumors, at present we have found no coding sequence mutations.
authors.affiliation: Kimmel Cancer Institute and Kimmel Cancer Center, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA.
authors.forename: D
authors.initials: D
authors.lastname: Rasio
authors.forename: Y
authors.initials: Y
authors.lastname: Murakumo
authors.forename: D
authors.initials: D
authors.lastname: Robbins
authors.forename: T
authors.initials: T
authors.lastname: Roth
authors.forename: A
authors.initials: A
authors.lastname: Silver
authors.forename: M
authors.initials: M
authors.lastname: Negrini
authors.forename: C
authors.initials: C
authors.lastname: Schmidt
authors.forename: J
authors.initials: J
authors.lastname: Burczak
authors.forename: R
authors.initials: R
authors.lastname: Fishel
authors.forename: C M
authors.initials: CM
authors.lastname: Croce
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D015152:Blotting, Northern; D001943:Breast Neoplasms / Q000235:genetics*; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D004265:DNA Helicases; D045643:DNA Repair Enzymes; D005091:Exons; D005656:Fungal Proteins / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007438:Introns; D008969:Molecular Sequence Data; D018807:Polymorphism, Single-Stranded Conformational; D029701:Saccharomyces cerevisiae Proteins; D014018:Tissue Distribution; D014407:Tumor Cells, Cultured
chemical_list: D005656:Fungal Proteins; D029701:Saccharomyces cerevisiae Proteins; C075468:RAD54 protein, S cerevisiae; D004265:DNA Helicases; D045643:DNA Repair Enzymes