Gene for the catalytic subunit of the human DNA-activated protein kinase maps to the site of the XRCC7 gene on chromosome 8

Proc Natl Acad Sci U S A. 1995 Aug 1;92(16):7515-9. doi: 10.1073/pnas.92.16.7515.

Abstract

The DNA-activated serine/threonine protein kinase (DNA-PK) is composed of a large (approximately 460 kDa) catalytic polypeptide (DNA-PKcs) and Ku, a heterodimeric DNA-binding component (p70/p80) that targets DNA-PKcs to DNA. A 41-kbp segment of the DNA-PKcs gene was isolated, and a 7902-bp segment was sequenced. The sequence contains a polymorphic Pvu II restriction enzyme site, and comparing the sequence with that of the cDNA revealed the positions of nine exons. The DNA-PKcs gene was mapped to band q11 of chromosome 8 by in situ hybridization. This location is coincident with that of XRCC7, the gene that complements the DNA double-strand break repair and V(D)J recombination defects (where V is variable, D is diversity, and J is joining) of hamster V3 and murine severe combined immunodeficient (scid) cells.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Animals
  • Base Sequence
  • Binding Sites / genetics
  • Catalysis
  • Chromosome Banding
  • Chromosome Mapping
  • Chromosomes, Human, Pair 8* / ultrastructure
  • Cricetinae
  • DNA Primers / genetics
  • DNA, Complementary / genetics
  • DNA-Activated Protein Kinase
  • DNA-Binding Proteins*
  • Exons
  • Humans
  • In Situ Hybridization, Fluorescence
  • Introns
  • Mice
  • Molecular Sequence Data
  • Nuclear Proteins
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length
  • Protein Conformation
  • Protein Serine-Threonine Kinases / chemistry
  • Protein Serine-Threonine Kinases / genetics*

Substances

  • DNA Primers
  • DNA, Complementary
  • DNA-Binding Proteins
  • Nuclear Proteins
  • DNA-Activated Protein Kinase
  • PRKDC protein, human
  • Protein Serine-Threonine Kinases

Associated data

  • GENBANK/L27425