Sipley J D, Menninger J C, Hartley K O, Ward D C, Jackson S P, Anderson C W
Biology Department, Brookhaven National Laboratory, Upton, NY 11973, USA.
Proc Natl Acad Sci U S A. 1995 Aug 1;92(16):7515-9. doi: 10.1073/pnas.92.16.7515.
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.
DNA激活的丝氨酸/苏氨酸蛋白激酶（DNA-PK）由一个大型（约460 kDa）催化多肽（DNA-PKcs）和Ku组成，Ku是一种异源二聚体DNA结合成分（p70/p80），可将DNA-PKcs靶向至DNA。分离出DNA-PKcs基因的一个41-kbp片段，并对一个7902-bp片段进行了测序。该序列包含一个多态性Pvu II限制性酶切位点，将该序列与cDNA序列进行比较，揭示了9个外显子的位置。通过原位杂交将DNA-PKcs基因定位到8号染色体的q11带。该位置与XRCC7基因的位置一致，XRCC7基因可弥补仓鼠V3细胞和小鼠严重联合免疫缺陷（scid）细胞的DNA双链断裂修复及V（D）J重组缺陷（其中V为可变区，D为多样区，J为连接区）。
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