Garcia-Perez Jose L, Marchetto Maria C N, Muotri Alysson R, Coufal Nicole G, Gage Fred H, O'Shea K Sue, Moran John V
Departments of Human Genetics and Internal Medicine, University of Michigan Medical School, 1241 E. Catherine Street, Ann Arbor, MI 48109, USA.
Hum Mol Genet. 2007 Jul 1;16(13):1569-77. doi: 10.1093/hmg/ddm105. Epub 2007 Apr 27.
LINE-1 elements comprise approximately 17% of human DNA and their mobility continues to impact genome evolution. However, little is known about the types of non-transformed cells that can support LINE-1 retrotransposition. Here, we show that human embryonic stem cells express endogenous LINE-1 elements and can accommodate LINE-1 retrotransposition in vitro. The resultant retrotransposition events can occur into genes and can result in the concomitant deletion of genomic DNA at the target site. Thus, these data suggest that LINE-1 retrotransposition events may occur during early stages of human development.
长散在核元件-1(LINE-1)约占人类DNA的17%,其移动性持续影响基因组进化。然而,对于能够支持LINE-1逆转录转座的未转化细胞类型却知之甚少。在此,我们表明人类胚胎干细胞表达内源性LINE-1元件,并且在体外能够容纳LINE-1逆转录转座。由此产生的逆转录转座事件可发生在基因中,并可导致靶位点基因组DNA的伴随性缺失。因此,这些数据表明LINE-1逆转录转座事件可能在人类发育的早期阶段发生。