title: Characterization of the promoter region, first ten exons and nine intron-exon boundaries of the DNA-dependent protein kinase catalytic subunit gene, DNA-PKcs (XRCC7).
abstract: The gene, DNAPKcs (XRCC7), for the human DNA-dependent protein kinase catalytic subunit (DNA-PKcs) is a strong candidate that complements a severe combined immunodeficiency (scid) and hypersensitivity to ionizing radiation in mice. We constructed a cosmid library from a previously identified, X RCC7-covering YAC clone (943G4). From the library, we isolated three cosmid clones containing the 5'-region of XRCC7. Sequence analysis with primer walking on a 6.3-kb segment of these cosmids identified the promoter region, the first ten exons and nine intron-exon boundaries of XRCC7. The promoter region contains several potential Sp1 protein-binding sites and a high G+C content but no TATA or CCAAT boxes. These findings are consistent with the TATA-less housekeeping gene promoter and provides the basis for transcriptional regulatory studies. Since nine other exons spanning an 8-kb segment are already known, a total of 19 exons in the gene have been identified. The cosmids isolated and the primer sets designed in the present study are useful for mutation analysis in patients with a SCID phenotype.
authors.affiliation: Department of Human Genetics, Nagasaki University School of Medicine, Japan. F0932@cc.nagasaki-u.ac.jp
authors.forename: M
authors.initials: M
authors.lastname: Fujimoto
authors.forename: N
authors.initials: N
authors.lastname: Matsumoto
authors.forename: T
authors.initials: T
authors.lastname: Tsujita
authors.forename: H
authors.initials: H
authors.lastname: Tomita
authors.forename: S
authors.initials: S
authors.lastname: Kondo
authors.forename: N
authors.initials: N
authors.lastname: Miyake
authors.forename: M
authors.initials: M
authors.lastname: Nakano
authors.forename: N
authors.initials: N
authors.lastname: Niikawa
mesh_terms: D001483:Base Sequence; D015139:Blotting, Southern; D002874:Chromosome Mapping; D003001:Cloning, Molecular; D003360:Cosmids; D018076:DNA, Complementary; D051747:DNA-Activated Protein Kinase; D004268:DNA-Binding Proteins; D005091:Exons; D006801:Humans; D007438:Introns; D008969:Molecular Sequence Data; D009687:Nuclear Proteins; D011401:Promoter Regions, Genetic; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: D018076:DNA, Complementary; D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; D051747:DNA-Activated Protein Kinase; C497263:PRKDC protein, human; D017346:Protein Serine-Threonine Kinases