Smit A F, Riggs A D
Department of Biology, Beckman Research Institute of the City of Hope, Duarte, CA 91010, USA.
Proc Natl Acad Sci U S A. 1996 Feb 20;93(4):1443-8. doi: 10.1073/pnas.93.4.1443.
We report several classes of human interspersed repeats that resemble fossils of DNA transposons, elements that move by excision and reintegration in the genome, whereas previously characterized mammalian repeats all appear to have accumulated by retrotransposition, which involves an RNA intermediate. The human genome contains at least 14 families and > 100,000 degenerate copies of short (180-1200 bp) elements that have 14- to 25-bp terminal inverted repeats and are flanked by either 8 bp or TA target site duplications. We describe two ancient 2.5-kb elements with coding capacity, Tigger1 and -2, that closely resemble pogo, a DNA transposon in Drosophila, and probably were responsible for the distribution of some of the short elements. The deduced pogo and Tigger proteins are related to products of five DNA transposons found in fungi and nematodes, and more distantly, to the Tc1 and mariner transposases. They also are very similar to the major mammalian centromere protein CENP-B, suggesting that this may have a transposase origin. We further identified relatively low-copy-number mariner elements in both human and sheep DNA. These belong to two subfamilies previously identified in insect genomes, suggesting lateral transfer between diverse species.
我们报道了几类人类散布重复序列,它们类似于DNA转座子的化石,DNA转座子是通过在基因组中切除和重新整合来移动的元件,而此前鉴定的哺乳动物重复序列似乎都是通过逆转座积累的,逆转座涉及RNA中间体。人类基因组包含至少14个家族以及超过100,000个短(180 - 1200 bp)元件的退化拷贝,这些元件具有14至25 bp的末端反向重复序列,两侧是8 bp或TA靶位点重复序列。我们描述了两个具有编码能力的古老2.5 kb元件Tigger1和 - 2,它们与果蝇中的DNA转座子pogo非常相似,可能负责一些短元件的分布。推导的pogo和Tigger蛋白与在真菌和线虫中发现的五个DNA转座子的产物相关,并且与Tc1和水手转座酶的关系更远。它们也与主要的哺乳动物着丝粒蛋白CENP - B非常相似,这表明它可能起源于转座酶。我们还在人类和绵羊DNA中鉴定出了相对低拷贝数的水手元件。这些属于先前在昆虫基因组中鉴定出的两个亚家族,表明在不同物种之间存在横向转移。