Jd. Sipley et al., GENE FOR THE CATALYTIC SUBUNIT OF THE HUMAN DNA-ACTIVATED PROTEIN-KINASE MAPS TO THE SITE OF THE XRCC7 GENE ON CHROMOSOME-8, Proceedings of the National Academy of Sciences of the United Statesof America, 92(16), 1995, pp. 7515-7519
The DNA-activated serine/threonine protein kinase (DNA-PK) is composed
of a large (approximate to 460 kDa) catalytic polypeptide (DNA-PKcs)
and Ku, a heterodimeric DNA-binding component (p70/p80) that targets D
NA-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 polymorph
ic Pvu II restriction enzyme site, and comparing the sequence with tha
t 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 (wh
ere V is variable, D is diversity, and J is joining) of hamster V3 and
murine severe combined immunodeficient (scid) cells.