Tulane University, Department of Epidemiology, School of Public Health and Tropical Medicine, Tulane Cancer Center, SL-66 1430 Tulane Ave., New Orleans, LA 70112.
Front Biosci (Landmark Ed). 2012 Jan 1;17(4):1345-61. doi: 10.2741/3991.
Mobile elements account for almost half of the mass of the human genome. Only the retroelements from the non-LTR (long terminal repeat) retrotransposon family, which include the LINE-1 (L1) and its non-autonomous partners, are currently active and contributing to new insertions. Although these elements seem to share the same basic amplification mechanism, the activity and success of the different types of retroelements varies. For example, Alu-induced mutagenesis is responsible for the majority of the documented instances of human disease induced by insertion of retroelements. Using copy number in mammals as an indicator, some SINEs have been vastly more successful than other retroelements, such as the retropseudogenes and even L1, likely due to differences in post-insertion selection and ability to overcome cellular controls. SINE and LINE integration can be differentially influenced by cellular factors, indicating some differences between in their amplification mechanisms. We focus on the known aspects of this group of retroelements and highlight their similarities and differences that may significantly influence their biological impact.
移动元件几乎占人类基因组质量的一半。目前只有非长末端重复(long terminal repeat)逆转录转座子家族的逆转录元件是活跃的,并有助于新的插入。尽管这些元件似乎共享相同的基本扩增机制,但不同类型的逆转录元件的活性和成功程度有所不同。例如,Alu 诱导的突变是导致大多数由逆转录元件插入引起的人类疾病的原因。使用哺乳动物中的拷贝数作为指标,一些 SINEs 比其他逆转录元件(如 retro 假基因甚至 L1)成功得多,这可能是由于插入后的选择和克服细胞控制的能力的差异。SINE 和 LINE 的整合可以被细胞因子差异地影响,这表明它们的扩增机制存在一些差异。我们关注这组逆转录元件的已知方面,并强调它们的相似性和差异,这些差异可能会显著影响它们的生物学影响。