Jeanpierre M, Weil D, Gallano P, Creau-Goldberg N, Junien C
Hum Genet. 1985;70(4):302-10. doi: 10.1007/BF00295365.
Several clones containing clusters of repetitive elements were isolated from a human chromosome 22 specific library. An EcoRI-XhoI fragment of 860bp was subcloned and was shown to belong to a family of tandemly repeated DNA linked to the Y-specific 3.4 kb HaeIII band. This probe hybridizes to several sets of sequences or subfamilies. The most abundant subfamily is a 1.8kb long sequence containing one EcoRV site, and in most repeats, one AvaII and one KpnI site. Using human-rodent somatic cell hybrid DNA, we have shown that this cluster is present on human chromosome 9 although presence on chromosome 15 is not excluded. Another subfamily, 6.1kb long, appears to be exclusive of chromosome 16. By in situ hybridization with metaphasic chromosomes, these sets of repeats were mapped to the constitutive heterochromatin of a few chromosomes. Coexistence in one genome of long tandem repeats of distinct organization but similar length may represent the outcome of a continuous process of fixation of variant sequences. Homologous repeats are also abundant in four higher primate genomes (Orangutan, gorilla, chimpanzee, and man) but absent in other primates (African green monkey, rhesus monkey, baboon, and mouse lemur).
从一个人类22号染色体特异性文库中分离出了几个含有重复元件簇的克隆。一个860bp的EcoRI - XhoI片段被亚克隆，并显示属于与Y特异性3.4kb HaeIII条带相连的串联重复DNA家族。该探针与几组序列或亚家族杂交。最丰富的亚家族是一个1.8kb长的序列，含有一个EcoRV位点，并且在大多数重复序列中，含有一个AvaII位点和一个KpnI位点。利用人 - 啮齿动物体细胞杂种DNA，我们已表明该簇存在于人类9号染色体上，尽管不排除存在于15号染色体上。另一个亚家族，长6.1kb，似乎是16号染色体所特有的。通过与中期染色体的原位杂交，这些重复序列组被定位到少数几条染色体的组成型异染色质上。不同组织但长度相似的长串联重复序列在一个基因组中的共存可能代表了变异序列固定的连续过程的结果。同源重复序列在四种高等灵长类动物基因组（猩猩、大猩猩、黑猩猩和人类）中也很丰富，但在其他灵长类动物（非洲绿猴、恒河猴、狒狒和小鼠狐猴）中不存在。
