Jabs E W, Wolf S F, Migeon B R
Proc Natl Acad Sci U S A. 1984 Aug;81(15):4884-8. doi: 10.1073/pnas.81.15.4884.
We have identified a human DNA recombinant (p308) with a 3.0-kilobase (kb) BamHI insert that hybridizes in situ exclusively to the centromeric region of all human autosomes and the X chromosome. This highly repetitive sequence is significantly enriched on several chromosomes, most prominently on chromosome 6. In all individuals, the majority of genomic repeats are organized as tandem 3.0-kb BamHI repeats, each containing one Taq I site; the others are organized into BamHI and Taq I repeats of variable size that have some chromosome specificity. Using mouse-human hybrids, we have defined the specific organization of this sequence on chromosomes 6, 3, and X. In some individuals, there are differences in the number and nature of the tandem repeats. These polymorphisms segregate in families as if chromosome specific. Although variable from one chromosome to another, 308 contains sequences homologous to DNA present in centric heterochromatin of essentially all human chromosomes and is evolutionarily conserved. Therefore, a significant component of pericentric DNA is similar for all human chromosomes.
我们鉴定出一种人类DNA重组体（p308），其带有一个3.0千碱基（kb）的BamHI插入片段，该片段原位杂交时仅与所有人类常染色体和X染色体的着丝粒区域杂交。这种高度重复序列在几条染色体上显著富集，最明显的是在6号染色体上。在所有个体中，大多数基因组重复序列以串联的3.0-kb BamHI重复序列形式存在，每个重复序列包含一个Taq I位点；其他的则组织成大小可变的BamHI和Taq I重复序列，具有一定的染色体特异性。利用小鼠-人类杂种细胞，我们确定了该序列在6号、3号和X染色体上的具体组织形式.在一些个体中，串联重复序列的数量和性质存在差异。这些多态性在家族中呈染色体特异性分离.尽管不同染色体之间存在差异，但308含有与基本上所有人类染色体着丝粒异染色质中存在的DNA同源的序列，并在进化上保守。因此，所有人类染色体近着丝粒DNA的一个重要组成部分是相似的。
