GENE FOR THE CATALYTIC SUBUNIT OF THE HUMAN DNA-ACTIVATED PROTEIN-KINASE MAPS TO THE SITE OF THE XRCC7 GENE ON CHROMOSOME-8
GENE FOR THE CATALYTIC SUBUNIT OF THE HUMAN DNA-ACTIVATED PROTEIN-KINASE MAPS TO THE SITE OF THE XRCC7 GENE ON CHROMOSOME-8
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DOI：
10.1073/pnas.92.16.7515
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发表时间：
1995-08-01
影响因子：
11.1
通讯作者：
ANDERSON, CW
中科院分区：
文献类型：
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作者：
SIPLEY, JD;MENNINGER, JC;ANDERSON, CW
DNA 激活的丝氨酸/苏氨酸蛋白激酶 (DNA-PK) 由大型（约 460 kDa）催化多肽 (DNA-PKcs) 和 Ku（一种将 DNA-PKcs 靶向 DNA 的异二聚体 DNA 结合成分 (p70/p80)）组成。分离出 DNA-PKcs 基因的 41 kbp 片段，并对 7902 bp 片段进行了测序。该序列含有多态性 Pvu II 限制性酶切位点，将该序列与 cDNA 的序列进行比较，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q11带。该位置与 XRCC7 的位置一致，XRCC7 是补充仓鼠 V3 和鼠严重联合免疫缺陷 (scid) 细胞的 DNA 双链断裂修复和 V(D)J 重组缺陷（其中 V 是可变的，D 是多样性，J 是连接）的基因。
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 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.