人类染色体中的一个重复DNA家族（Sau3A家族）：染色体外DNA与DNA多态性
A repetitive DNA family (Sau3A family) in human chromosomes: extrachromosomal DNA and DNA polymorphism.
作者信息
Kiyama R, Matsui H, Oishi M
出版信息
Proc Natl Acad Sci U S A. 1986 Jul;83(13):4665-9. doi: 10.1073/pnas.83.13.4665.
In this paper, we report a tandemly repeated DNA sequence found in human chromosomes. The DNA sequence, which is present at approximately 1000 copies per haploid genome, consists of a basic unit 849 base pairs (bp) long with a single specific restriction enzyme (Sau3AI) cutting site. The unit is further composed of five subunits, each approximately 170 bp long. When DNAs from various sources were examined by Southern hybridization using the repetitive DNA as a probe, a considerable degree of restriction fragment length polymorphism was observed. Furthermore, a substantial percentage (approximately 1.0%) of the same DNA sequence was also found extrachromosomally in the cultured human (HeLa) cells as monomers and oligomers of the basic unit in the form of covalently closed circular DNA. These results suggest that the repetitive DNA is unstable and prone to be excised from the chromosomes through homologous recombination.
在本文中，我们报道了在人类染色体中发现的一个串联重复DNA序列。该DNA序列在单倍体基因组中约有1000个拷贝，由一个849个碱基对（bp）长的基本单元组成，具有一个单一的特异性限制酶（Sau3AI）切割位点。该单元进一步由五个亚基组成，每个亚基约170 bp长。当使用该重复DNA作为探针通过Southern杂交检测来自各种来源的DNA时，观察到了相当程度的限制性片段长度多态性。此外，在培养的人类（HeLa）细胞中还以共价闭合环状DNA的形式在染色体外发现了相当比例（约1.0%）的相同DNA序列，呈基本单元的单体和寡聚体形式。这些结果表明，该重复DNA不稳定，易于通过同源重组从染色体上切除。
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