Bailey A D, Shen C K
Department of Genetics, University of California, Davis 95616.
Proc Natl Acad Sci U S A. 1993 Aug 1;90(15):7205-9. doi: 10.1073/pnas.90.15.7205.
The presence of Alu family repeats is closely associated with interspecies length polymorphisms of certain genomic regions among different higher primates. By sequence analysis of cloned DNA, we show that one major cause for the length difference between the gibbon adult alpha-globin locus and those of human, orangutan, and Old World monkeys is the existence of multimeric Alu family repeats. Triplet Alu family repeats exist at two genomic sites of gibbon. Instead, singleton or doublet Alu family repeats are present at the orthologous positions in other higher primates. Sequence comparisons suggest that these doublet and triplet Alu repeats have been created by successive insertion of different singleton Alu repeat sequences, of approximately 300 bp, into the same genomic spot(s) during primate evolution. The approximate dates of insertion of these singleton Alu repeats support the concept of overlapping periods of active transposition or retroposition of Alu repeat subfamilies. This dynamic flow of Alu repeat sequences during primate evolution into the adult alpha-globin loci, but not beta-globin-like loci, is consistent with the previous finding that R-banding regions of the primate chromosomes are enriched in Alu repeats.
Alu家族重复序列的存在与不同高等灵长类动物某些基因组区域的种间长度多态性密切相关。通过对克隆DNA的序列分析,我们发现长臂猿成年α-珠蛋白基因座与人、猩猩和旧世界猴的α-珠蛋白基因座长度差异的一个主要原因是多聚体Alu家族重复序列的存在。三联体Alu家族重复序列存在于长臂猿的两个基因组位点。相反,在其他高等灵长类动物的直系同源位置存在单拷贝或双拷贝Alu家族重复序列。序列比较表明,这些双拷贝和三拷贝Alu重复序列是在灵长类动物进化过程中,通过将不同的约300 bp单拷贝Alu重复序列连续插入同一基因组位点而产生的。这些单拷贝Alu重复序列的大致插入日期支持了Alu重复亚家族活跃转座或反转录的重叠时期的概念。在灵长类动物进化过程中,Alu重复序列动态流入成年α-珠蛋白基因座,而不是β-珠蛋白样基因座,这与之前的发现一致,即灵长类动物染色体的R带区域富含Alu重复序列。