Characterization of a cloned DNA sequence that is present at centromeres of all human autosomes and the X chromosome and shows polymorphic variation.
Characterization of a cloned DNA sequence that is present at centromeres of all human autosomes and the X chromosome and shows polymorphic variation.
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存在于所有人类常染色体和 X 染色体着丝粒处并显示多态性变异的克隆 DNA 序列的表征。
DOI：
10.1073/pnas.81.15.4884
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发表时间：
1984
影响因子：
11.1
通讯作者：
B. Migeon
中科院分区：
文献类型：
--
作者：
E. Jabs;S. Wolf;B. Migeon
我们已经鉴定出带有 3.0 千碱基 (kb) BamHI 插入片段的人类 DNA 重组体 (p308)，它仅与所有人类常染色体的着丝粒区域和 X 染色体进行原位杂交。这一高度重复的序列在多条染色体上显着富集，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被组织为串联 3.0-kb BamHI 重复序列，每个重复序列包含一个 Taq I 位点；其他的则被组织成大小可变的 BamHI 和 Taq I 重复序列，具有一定的染色体特异性。利用小鼠-人类杂交体，我们定义了该序列在 6、3 和 X 号染色体上的特定组织。在某些个体中，串联重复的数量和性质存在差异。这些多态性在家族中分离，就好像染色体特异性一样。虽然从一条染色体到另一条染色体有所不同，但 308 包含与基本上所有人类染色体的中心异染色质中存在的 DNA 同源的序列，并且在进化上是保守的。因此，所有人类染色体的中心周 DNA 的一个重要组成部分都是相似的。
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.